H63Y (p.His63Tyr) variant of STAT6 (P42226)
H63Y (p.His63Tyr) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
H63Y (p.His63Tyr) variant details
- p.His63Tyr
- TOPMed rs1478597227
- gnomAD rs1478597227
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.08
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available