L134F (p.Leu134Phe) variant of STAT6 (P42226)
L134F (p.Leu134Phe) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L134F (p.Leu134Phe) variant details
- p.Leu134Phe
- cosmic curated COSV55668
- ExAC rs776641789
- gnomAD rs776641789
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.34
- CADD 16.90
- PolyPhen-2 0.77
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 0.0057)
- Structural context available