CD177 p.Ser364Thr
c.1090T>A · rs180771874 · VCV785915
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.81%, amr)
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 -7.6 | GERP -2.7 |
| Regional constraint | o/e 1.18 | unconstrained · MANE · 8,602 bp · p 3.2e-05 · regional, not allelic |
| Overall | ||
| CADD | 0.002 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.81%
Admixed American · 1,084/59,988 alleles
Filtering AF
1.72%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.68%
Overall
0.0796%
1,284/1,613,548 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 1.81% | 55 |
| Remaining individualsnot grpmax-eligible | 0.0929% | 1,077 |
| African / African-American | 0.0253% | 3,948 |
| European (non-Finnish) | 0.0103% | 9,749 |
| South Asian | 0.0022% | 45,536 |
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.Ser364Thr
- Coding
- c.1090T>A
- MANE Select
- NM_020406
- dbSNP
- rs180771874
- Type
- single nucleotide variant
- Location
- chr19:43362096 (GRCh38)
- Gene constraint
- LOEUF 1.557 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.67 · 2 PDB
- Residue 364
- the upar/ly6 2 domain
Similar variants
- CD177 p.Gly431Arg Benign ★★ same type
- CD177 p.Lys366Arg Benign ★★ same type
- CD177 p.Phe208Val 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
- CD177 p.Arg213Gln 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-ser364thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown