A69T (p.Ala69Thr) variant of SH2D1A (SH2 domain-containing protein 1A)
A69T (p.Ala69Thr) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- NCI-TCGA Cosmic COSV6357
- cosmic curated COSV63578
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.36
- MetaLR 0.56
- MetaSVM 0.08
- CADD 22.30
- PolyPhen-2 0.30
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available