A22V (p.Ala22Val) variant of SH2B3 (SH2B adapter protein 3)
A22V (p.Ala22Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- Ensembl rs2135546861
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.03
- SIFT 0.53
- Structural context available