CD177 p.Pro283Ser
c.847C>T · VCV3998018
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0297%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.1 | GERP 0.33, phastCons 0.75 |
| Regional constraint | o/e 1.18 | unconstrained · MANE · 8,602 bp · p 3.2e-05 · regional, not allelic |
| Overall | ||
| CADD | 18.47 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0297%
African / African-American · 22/74,012 alleles
Filtering AF
0.0201%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0169%
Overall
0.002%
31/1,548,834 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0297% | 3,364 |
| Admixed American | 0.0101% | 9,884 |
| Remaining individualsnot grpmax-eligible | 0.00496% | 20,175 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CD177
- Protein
- p.Pro283Ser
- Coding
- c.847C>T
- MANE Select
- NM_020406
- Type
- single nucleotide variant
- Location
- chr19:43361229 (GRCh38)
- Gene constraint
- LOEUF 1.557 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.67 · 2 PDB
Similar variants
- 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
- CD177 p.Ala425Pro 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-pro283ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown