P8R (p.Pro8Arg) variant of WWTR1 (Q9GZV5)
P8R (p.Pro8Arg) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- ExAC rs775931257
- TOPMed rs775931257
- gnomAD rs775931257
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.03
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.248