G75V (p.Gly75Val) variant of WWTR1 (Q9GZV5)
G75V (p.Gly75Val) in WWTR1 (Q9GZV5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G75V (p.Gly75Val) variant details
- p.Gly75Val
- TOPMed rs1713282358
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.10
- CADD 24.00
- PolyPhen-2 0.46
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available