V37L (p.Val37Leu) variant of SH2D1A (SH2 domain-containing protein 1A)
V37L (p.Val37Leu) 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 0.29 / 1. The record also includes population frequency data and structural context.
V37L (p.Val37Leu) variant details
- p.Val37Leu
- NCI-TCGA Cosmic COSV6357
- cosmic curated COSV63579
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.27
- MetaLR 0.46
- MetaSVM -0.49
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available