V70L (p.Val70Leu) variant of PRKN (O60260)
V70L (p.Val70Leu) in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V70L (p.Val70Leu) variant details
- p.Val70Leu
- Ensembl rs899299169
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.71
- MetaLR 0.86
- MetaSVM 0.59
- CADD 22.80
- PolyPhen-2 0.13
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.483