D18V (p.Asp18Val) variant of PRKN (O60260)
D18V (p.Asp18Val) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D18V (p.Asp18Val) variant details
- p.Asp18Val
- TOPMed rs1438259227
- gnomAD rs1438259227
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.58
- MetaLR 0.35
- MetaSVM -0.28
- CADD 25.20
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.02