A47V (p.Ala47Val) variant of STAT3 (P40763)
A47V (p.Ala47Val) in STAT3 (P40763) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- Ensembl rs2144992828
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.34
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available