CD8B p.Val218=
c.654C>A · VCV3829655
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0147%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.042 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.73 | GERP -0.2, phastCons 0.003 |
| Overall | ||
| CADD | 0.314 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0147%
African / African-American · 11/74,880 alleles
Filtering AF
0.00816%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00634%
Overall
0.00192%
31/1,612,400 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0147% | 6,807 |
| European (non-Finnish) | 0.00161% | 62,029 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,428 |
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.Val218=
- Coding
- c.654C>A
- MANE Select
- NM_004931 · reported on NM_172213
- Type
- single nucleotide variant
- Location
- chr2:86815685 (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-val218 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown