L137V (p.Leu137Val) variant of STAT6 (P42226)
L137V (p.Leu137Val) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L137V (p.Leu137Val) variant details
- p.Leu137Val
- TOPMed rs1435974202
- gnomAD rs1435974202
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.32
- CADD 24.30
- PolyPhen-2 0.53
- SIFT 0.02
- Population evidence available
- Structural context available