P12L (p.Pro12Leu) variant of STAT6 (P42226)
P12L (p.Pro12Leu) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- Ensembl rs2034394238
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.20
- CADD 26.60
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available