E14K (p.Glu14Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
E14K (p.Glu14Lys) 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 0.55 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs779822938
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- ExAC rs779822938
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.55
- MetaLR 0.56
- MetaSVM 0.01
- CADD 22.60
- PolyPhen-2 0.43
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available