CD177 p.Ser233=
c.699G>T · rs115729962 · VCV2650061
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.975%, 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 -11 | GERP -2.2 |
| Overall | ||
| CADD | 0.081 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.975%
African / African-American · 731/74,958 alleles
Filtering AF
0.917%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.893%
Overall
0.0552%
890/1,611,804 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.975% | 103 |
| Admixed American | 0.0837% | 1,194 |
| East Asian | 0.0781% | 1,280 |
| Remaining individualsnot grpmax-eligible | 0.0577% | 1,734 |
| Middle Eastern | 0.033% | 3,031 |
| South Asian | 0.00664% | 15,067 |
| European (non-Finnish) | 0.00254% | 39,301 |
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.Ser233=
- Coding
- c.699G>T
- MANE Select
- NM_020406
- dbSNP
- rs115729962
- Type
- single nucleotide variant
- Location
- chr19:43360344 (GRCh38)
- Gene constraint
- LOEUF 1.557 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.67 · 2 PDB
Similar variants
- CD177 p.Ser233Leu 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-ser233 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown