A5T (p.Ala5Thr) variant of SH2D1A (SH2 domain-containing protein 1A)
A5T (p.Ala5Thr) 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 record also includes variant effect predictions and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- Ensembl rs2147519386
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.78
- MetaSVM 0.08
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available