A38V (p.Ala38Val) variant of PRKN (O60260)
A38V (p.Ala38Val) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- gnomAD rs1433385523
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -0.93
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.329