E15K (p.Glu15Lys) variant of PARK7 (Parkinson disease protein 7)
E15K (p.Glu15Lys) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- cosmic curated COSV58579
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.84
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available