A3T (p.Ala3Thr) variant of SH2D1A (SH2 domain-containing protein 1A)
A3T (p.Ala3Thr) 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 0.24 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- NCI-TCGA Cosmic COSV6357
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.15
- MetaLR 0.80
- MetaSVM 0.15
- CADD 8.24
- PolyPhen-2 0.00
- SIFT 0.69
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available