L38P (p.Leu38Pro) variant of PARK7 (Parkinson disease protein 7)
L38P (p.Leu38Pro) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L38P (p.Leu38Pro) variant details
- p.Leu38Pro
- gnomAD rs1640301661
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.84
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available