S161C (p.Ser161Cys) variant of STAT6 (P42226)
S161C (p.Ser161Cys) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S161C (p.Ser161Cys) variant details
- p.Ser161Cys
- ExAC rs767350387
- gnomAD rs767350387
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.08
- AlphaMissense 0.95
- MetaLR 0.64
- MetaSVM 0.45
- CADD 22.00
- PolyPhen-2 0.99
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available