A102V (p.Ala102Val) variant of WWTR1 (Q9GZV5)
A102V (p.Ala102Val) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A102V (p.Ala102Val) variant details
- p.Ala102Val
- ExAC rs771327704
- TOPMed rs771327704
- gnomAD rs771327704
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.04
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.64
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available