A5V (p.Ala5Val) variant of SH2B3 (SH2B adapter protein 3)
A5V (p.Ala5Val) in SH2B3 (SH2B adapter protein 3) 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 0.24 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs752520582
- NCI-TCGA Cosmic COSV1003
- ExAC rs752520582
- gnomAD rs752520582
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.07
- CADD 18.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available