A30V (p.Ala30Val) variant of WWTR1 (Q9GZV5)
A30V (p.Ala30Val) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- Ensembl rs1713293924
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.33
- CADD 29.60
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.338