A17V (p.Ala17Val) variant of SH2B3 (SH2B adapter protein 3)
A17V (p.Ala17Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- ExAC rs748515476
- gnomAD rs748515476
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.06
- MetaSVM -1.04
- CADD 7.96
- Most common in the South Asian population (allele frequency 4.9e-05)
- Structural context available