CD248 p.Val447=
c.1341C>T · rs115572668 · VCV785358
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.48%, 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 3.7 | GERP 0.6, phastCons 1 |
| Overall | ||
| CADD | 6.847 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.48%
African / African-American · 2,608/74,964 alleles
Filtering AF
3.37%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.32%
Overall
0.186%
3,003/1,613,484 alleles · low-frequency
exomes 1,473/1,461,324 · genomes 1,530/152,160 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.48% | 29 |
| Admixed American | 0.253% | 395 |
| Remaining individualsnot grpmax-eligible | 0.235% | 425 |
| Middle Eastern | 0.116% | 865 |
| European (non-Finnish) | 0.00729% | 13,718 |
| South Asian | 0.00329% | 30,358 |
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.Val447=
- Coding
- c.1341C>T
- MANE Select
- NM_020404
- dbSNP
- rs115572668
- Type
- single nucleotide variant
- Location
- chr11:66315687 (GRCh38)
- Gene constraint
- LOEUF 1.594 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.70
Similar variants
- CD248 p.Val447Ile Uncertain significance ★ ⚠ same residue
- 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
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-val447 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown