I69V (p.Ile69Val) variant of PRKN (O60260)
I69V (p.Ile69Val) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I69V (p.Ile69Val) variant details
- p.Ile69Val
- rs766391627
- ClinGen CA4090452
- ClinVar RCV001235576
- ClinVar RCV003331086
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.34
- MetaLR 0.27
- MetaSVM -0.53
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0277