CD8B p.Gln220Arg
c.659A>G · rs771961718 · VCV3140706
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0156%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.019 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.082 | GERP -1.5 |
| Overall | ||
| CADD | 0.107 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0156%
East Asian · 7/44,896 alleles
Filtering AF
0.00726%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00514%
Overall
0.00062%
10/1,613,158 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0156% | 6,414 |
| Finnishnot grpmax-eligible | 0.00312% | 32,015 |
| European (non-Finnish) | 8.48e-05% | 1,179,234 |
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
- CD8B
- Protein
- p.Gln220Arg
- Coding
- c.659A>G
- MANE Select
- NM_004931 · reported on NM_172213
- dbSNP
- rs771961718
- Type
- single nucleotide variant
- Location
- chr2:86815680 (GRCh38)
- Gene constraint
- LOEUF 0.764 · pLI 0.42 (gnomAD)
- Structure
- AlphaFold pLDDT 82.03
Similar variants
- CD8B p.Ala190Thr Uncertain significance ★ ⚠ same type
- CD8B p.Ala60Thr Uncertain significance ★ ⚠ same type
- CD8B p.Arg156Trp Uncertain significance ★ ⚠ same type
- CD8B p.Arg201Gln Uncertain significance ★ ⚠ same type
- CD8B p.Arg203Cys Uncertain significance ★ ⚠ same type
- CD8B p.Arg51His Uncertain significance ★ ⚠ same type
- CD8B p.Arg98Gln Uncertain significance ★ ⚠ same type
- CD8B p.Arg98Leu 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/cd8b-p-gln220arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown