A22S (p.Ala22Ser) variant of SH2B3 (SH2B adapter protein 3)
A22S (p.Ala22Ser) 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.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- gnomAD 12-111418209-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0853
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -0.99
- CADD 2.01
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available