G25V (p.Gly25Val) variant of SH2B3 (SH2B adapter protein 3)
G25V (p.Gly25Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- gnomAD 12-111418219-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.39
- MetaLR 0.18
- MetaSVM -0.76
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available