G105V (p.Gly105Val) variant of STAT6 (P42226)
G105V (p.Gly105Val) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G105V (p.Gly105Val) variant details
- p.Gly105Val
- ExAC rs769739267
- TOPMed rs769739267
- gnomAD rs769739267
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.17
- CADD 25.00
- PolyPhen-2 0.94
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available