P8H (p.Pro8His) variant of WWTR1 (Q9GZV5)
P8H (p.Pro8His) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P8H (p.Pro8His) variant details
- p.Pro8His
- ExAC rs775931257
- TOPMed rs775931257
- gnomAD rs775931257
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.05
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- WWTR1 WW domain domainome 1.0: score -0.248