S54G (p.Ser54Gly) variant of STAT6 (P42226)
S54G (p.Ser54Gly) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S54G (p.Ser54Gly) variant details
- p.Ser54Gly
- TOPMed rs1224577652
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.16
- CADD 20.70
- PolyPhen-2 0.52
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available