V3L (p.Val3Leu) variant of PRKN (O60260)
V3L (p.Val3Leu) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- Ensembl rs2128243198
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.60
- CADD 36.00
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.185