E17K (p.Glu17Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
E17K (p.Glu17Lys) 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.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- NCI-TCGA Cosmic COSV6357
- cosmic curated COSV63578
- Ensembl rs2147519424
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.91
- MetaSVM 1.05
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available