Is GCGR p.Arg201Pro (c.602G>C) pathogenic?

GCGR p.Arg201Pro (c.602G>C) is classified Uncertain significance in GCGR (ClinVar, Single submitter, 1 submitter; last evaluated 2022-04-13). AlphaMissense: ambiguous (0.4512); Absent from gnomAD v4.1.

How common is GCGR p.Arg201Pro (c.602G>C) in the general population?

GCGR p.Arg201Pro (c.602G>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about GCGR p.Arg201Pro (c.602G>C)?

AlphaMissense predicts ambiguous (score 0.4512) — an in-silico prediction, not a clinical call.

GCGR p.Arg201Pro

c.602G>C · rs1213878850 · VCV2283648

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4512 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

REVEL, SaProt · AlphaMissense indeterminate

Computational evidence

Protein change
AlphaMissense	0.4512	ambiguous
REVEL	0.143	moderately benign-leaning
SaProt	LLR -9.23	tolerated
⇒ REVEL and SaProt both call this tolerated; AlphaMissense is indeterminate.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 6.4	GERP 0.004, phastCons 1
Regional constraint	o/e 0.93	unconstrained · MANE · 4,667 bp · p 0.087 · regional, not allelic
Overall
CADD	22.7	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: GCGR
Protein: p.Arg201Pro
Coding: c.602G>C
MANE Select: NM_000160
dbSNP: rs1213878850
Type: single nucleotide variant
Location: chr17:81811505 (GRCh38)
Gene constraint: LOEUF 1.018 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.56 · 28 PDB

Full GCGR gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

GCGR p.Ala373Thr Uncertain significance ★★ ⚠ same type
GCGR p.Ala380Thr Uncertain significance ★★ ⚠ same type
GCGR p.Arg324Cys Uncertain significance ★★ ⚠ same type
GCGR p.Arg413Gln Uncertain significance ★★ ⚠ same type
GCGR p.Arg417His Uncertain significance ★★ ⚠ same type
GCGR p.Leu358Val Uncertain significance ★★ ⚠ same type
GCGR p.Phe181Ser Uncertain significance ★★ ⚠ same type
GCGR p.Pro52Thr Uncertain significance ★★ ⚠ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/gcgr-p-arg201pro (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown