E35K (p.Glu35Lys) variant of SH2D1A (SH2 domain-containing protein 1A)
E35K (p.Glu35Lys) 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 0.81 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- cosmic curated COSV10592
- NCI-TCGA TCGA novel
- Ensembl rs2147519489
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.85
- MetaLR 0.80
- MetaSVM 0.79
- CADD 27.90
- PolyPhen-2 0.68
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available