P54H (p.Pro54His) variant of PARK7 (Parkinson disease protein 7)
P54H (p.Pro54His) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P54H (p.Pro54His) variant details
- p.Pro54His
- ESP rs368405677
- TOPMed rs368405677
- gnomAD rs368405677
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.82
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available