A47T (p.Ala47Thr) variant of STAT6 (P42226)
A47T (p.Ala47Thr) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- cosmic curated COSV55672
- ExAC rs745938816
- TOPMed rs745938816
- gnomAD rs745938816
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.04
- CADD 8.63
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available