CD248 p.His308Pro
c.923A>C · VCV4650549
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.3853 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| AlphaMissense | 0.3853 | ambiguous |
|---|---|---|
| REVEL | 0.42 | indeterminate |
| SaProt | LLR -12.38 | damaging |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 1.6, phastCons 1 |
| Regional constraint | o/e 0.90 | unconstrained · MANE · 942 bp · p 0.041 · regional, not allelic |
| Overall | ||
| CADD | 23.7 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CD248
- Protein
- p.His308Pro
- Coding
- c.923A>C
- MANE Select
- NM_020404
- Type
- single nucleotide variant
- Location
- chr11:66316105 (GRCh38)
- Gene constraint
- LOEUF 1.594 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.70
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-his308pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown