I18V (p.Ile18Val) variant of WWTR1 (Q9GZV5)
I18V (p.Ile18Val) 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, experimental measurements, and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- ExAC rs757327711
- TOPMed rs757327711
- gnomAD rs757327711
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.07
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.0858