CD180 p.Ser602=
c.1806G>A · rs147445049 · VCV725876
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.231%, 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 -9.8 | GERP -8.3 |
| Overall | ||
| CADD | 0.232 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.231%
African / African-American · 173/75,044 alleles
Filtering AF
0.202%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.192%
Overall
0.013%
210/1,613,972 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.231% | 434 |
| Admixed American | 0.0183% | 5,453 |
| Remaining individualsnot grpmax-eligible | 0.0144% | 6,945 |
| East Asian | 0.00891% | 11,220 |
| South Asian | 0.0011% | 90,990 |
| European (non-Finnish) | 0.00102% | 98,331 |
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
- CD180
- Protein
- p.Ser602=
- Coding
- c.1806G>A
- MANE Select
- NM_005582
- dbSNP
- rs147445049
- Type
- single nucleotide variant
- Location
- chr5:67183037 (GRCh38)
- Gene constraint
- LOEUF 1.886 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.27 · 1 PDB
- Residue 602
- the lrrct domain
Similar variants
- CD180 p.Leu398= Benign ★★ same type
- CD180 p.Ser584= Benign ★★ same type
- CD180 p.Thr222= Benign ★★ same type
- CD180 p.Thr430Ala Benign ★★ ⚠ same type
- CD180 p.Ala415Ser Uncertain significance ★ ⚠ same type
- CD180 p.Ala466Ser Uncertain significance ★ ⚠ same type
- CD180 p.Ala649Thr Uncertain significance ★ ⚠ same type
- CD180 p.Arg173Trp 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/cd180-p-ser602 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown