A5S (p.Ala5Ser) variant of SH2B3 (SH2B adapter protein 3)
A5S (p.Ala5Ser) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 12-111418158-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0894
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.09
- CADD 4.74
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available