Is CD177 p.Cys151Phe (c.452G>T) pathogenic?

CD177 p.Cys151Phe (c.452G>T) is classified Uncertain significance in CD177 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-24). Absent from gnomAD v4.1.

How common is CD177 p.Cys151Phe (c.452G>T) in the general population?

CD177 p.Cys151Phe (c.452G>T) is absent from gnomAD v4.1 (gnomAD).

CD177 p.Cys151Phe

c.452G>T · VCV4650447

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.783	moderately pathogenic-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 10	GERP 1.1, phastCons 1
Regional constraint	o/e 1.18	unconstrained · MANE · 8,602 bp · p 3.2e-05 · regional, not allelic
Overall
CADD	23.6	PHRED · no single calibrated threshold — expert panels disagree

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: CD177
Protein: p.Cys151Phe
Coding: c.452G>T
MANE Select: NM_020406
Type: single nucleotide variant
Location: chr19:43355733 (GRCh38)
Gene constraint: LOEUF 1.557 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 85.67 · 2 PDB
Residue 151: the upar/ly6 1 domain

Full CD177 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CD177 p.Cys151Tyr Uncertain significance ★ same residue
CD177 p.Gly431Arg Benign ★★ same type
CD177 p.Lys366Arg Benign ★★ same type
CD177 p.Phe208Val Benign ★★ same type
CD177 p.Ser364Thr Benign ★★ same type
CD177 p.Thr210Ile Benign/Likely benign ★★ same type
CD177 p.Ala281Asp Uncertain significance ★ same type
CD177 p.Ala3Val 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/cd177-p-cys151phe (accessed [today's date]).

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