L24V (p.Leu24Val) variant of WWTR1 (Q9GZV5)
L24V (p.Leu24Val) in WWTR1 (Q9GZV5) 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, experimental measurements, and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- ESP rs368881113
- ExAC rs368881113
- TOPMed rs368881113
- gnomAD rs368881113
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.12
- CADD 23.60
- PolyPhen-2 0.48
- SIFT 0.25
- Most common in the Ashkenazi Jewish population (allele frequency 0.0005)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.424