D42E (p.Asp42Glu) variant of PARK7 (Parkinson disease protein 7)
D42E (p.Asp42Glu) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- gnomAD rs1337083012
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.25
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available