V17M (p.Val17Met) variant of WWTR1 (Q9GZV5)
V17M (p.Val17Met) in WWTR1 (Q9GZV5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- rs963468962
- TOPMed rs963468962
- gnomAD rs963468962
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.17
- CADD 27.00
- PolyPhen-2 0.80
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- 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