V72I (p.Val72Ile) variant of SH2D1A (SH2 domain-containing protein 1A)
V72I (p.Val72Ile) 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 0.53 / 1. The record also includes population frequency data and structural context.
V72I (p.Val72Ile) variant details
- p.Val72Ile
- rs1472284481
- NCI-TCGA Cosmic COSV6357
- cosmic curated COSV63579
- gnomAD rs1472284481
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.11
- MetaLR 0.57
- MetaSVM 0.22
- PolyPhen-2 0.86
- SIFT 0.20
- MutPred 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available