Is CD55 p.Pro47Arg (c.140C>G) pathogenic?

CD55 p.Pro47Arg (c.140C>G) is classified Uncertain significance in CD55 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-09). AlphaMissense: ambiguous (0.3452); Absent from gnomAD v4.1.

How common is CD55 p.Pro47Arg (c.140C>G) in the general population?

CD55 p.Pro47Arg (c.140C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CD55 p.Pro47Arg (c.140C>G)?

AlphaMissense predicts ambiguous (score 0.3452) — an in-silico prediction, not a clinical call.

CD55 p.Pro47Arg

c.140C>G · rs2526923464 · VCV2004049

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3452 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

REVEL, SaProt · AlphaMissense no call

Computational evidence

Protein change
AlphaMissense	0.3452	ambiguous
REVEL	0.182	moderately benign-leaning
SaProt	LLR -10.28	damaging
⇒ SaProt calls this damaging; REVEL does not; AlphaMissense makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.093	GERP 1.5
Regional constraint	o/e 1.17	unconstrained · MANE · 761 bp · p 0.08 · regional, not allelic
Overall
CADD	18.27	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: CD55
Protein: p.Pro47Arg
Coding: c.140C>G
MANE Select: NM_000574
dbSNP: rs2526923464
Type: single nucleotide variant
Location: chr1:207322421 (GRCh38)
Gene constraint: LOEUF 1.234 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 78.99 · 33 PDB
Residue 47: a disulfide bond; the sushi 1 domain; a β-strand

Full CD55 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CD55 c.286+1G>A Likely pathogenic ★★ same type
CD55 c.286+2T>G Likely pathogenic ★★ same type
CD55 p.Glu50Ter Pathogenic/Likely pathogenic ★★ same type
CD55 p.Trp213Ter Pathogenic/Likely pathogenic ★★ same type
CD55 c.1081+1G>C Uncertain significance ★★ same type
CD55 p.Arg221Ser Uncertain significance ★★ ⚠ same type
CD55 p.Arg357Cys Uncertain significance ★★ ⚠ same type
CD55 p.Arg357His 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/cd55-p-pro47arg (accessed [today's date]).

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