G25C (p.Gly25Cys) variant of SH2B3 (SH2B adapter protein 3)
G25C (p.Gly25Cys) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G25C (p.Gly25Cys) variant details
- p.Gly25Cys
- gnomAD 12-111418218-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.51
- MetaLR 0.20
- MetaSVM -0.68
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available