G3W (p.Gly3Trp) variant of SH2B3 (SH2B adapter protein 3)
G3W (p.Gly3Trp) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G3W (p.Gly3Trp) variant details
- p.Gly3Trp
- gnomAD 12-111418152-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available