L32V (p.Leu32Val) variant of SH2B3 (SH2B adapter protein 3)
L32V (p.Leu32Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- Ensembl rs2135547006
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- ESM-1b 0.52
- AlphaMissense 0.10
- MetaLR 0.18
- MetaSVM -0.86
- SIFT 0.04
- Structural context available