CD248 p.Ala174=
c.522C>T · VCV3998152
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0179%, eas)
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 -8 | GERP -2.4 |
| Overall | ||
| CADD | 0.428 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0179%
East Asian · 8/44,622 alleles
Filtering AF
0.00888%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00644%
Overall
0.00132%
19/1,443,400 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0179% | 5,578 |
| Admixed American | 0.00168% | 59,640 |
| South Asian | 0.0011% | 90,720 |
| European (non-Finnish) | 0.000764% | 130,922 |
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
- CD248
- Protein
- p.Ala174=
- Coding
- c.522C>T
- MANE Select
- NM_020404
- Type
- single nucleotide variant
- Location
- chr11:66316506 (GRCh38)
- Gene constraint
- LOEUF 1.594 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.70
- Residue 174
- the sushi domain
Similar variants
- CD248 p.Ala303Val Likely benign ★★ same type
- CD248 p.Ala486Thr Benign ★★ same type
- CD248 p.Arg101= Benign ★★ same type
- CD248 p.Asp379= Benign ★★ same type
- CD248 p.Ile485= Benign ★★ same type
- CD248 p.Pro412= Benign ★★ same type
- CD248 p.Ser598= Benign ★★ same type
- CD248 p.Tyr410= Benign ★★ 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/cd248-p-ala174 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown