V70M (p.Val70Met) variant of PRKN (O60260)
V70M (p.Val70Met) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V70M (p.Val70Met) variant details
- p.Val70Met
- rs899299169
- ClinGen CA151118933
- ClinVar RCV001769374
- Ensembl rs899299169
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.76
- MetaLR 0.93
- MetaSVM 0.77
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- 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