Y19C (p.Tyr19Cys) variant of STAT6 (P42226)
Y19C (p.Tyr19Cys) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y19C (p.Tyr19Cys) variant details
- p.Tyr19Cys
- TOPMed rs1337779301
- gnomAD rs1337779301
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.69
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available