V17L (p.Val17Leu) variant of WWTR1 (Q9GZV5)
V17L (p.Val17Leu) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- TOPMed rs963468962
- gnomAD rs963468962
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.11
- CADD 23.90
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.264