L29V (p.Leu29Val) variant of STAT6 (P42226)
L29V (p.Leu29Val) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- 1000Genomes rs544099322
- ExAC rs544099322
- gnomAD rs544099322
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.18
- CADD 25.10
- PolyPhen-2 0.70
- SIFT 0.03
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available