I2V (p.Ile2Val) variant of PRKN (O60260)
I2V (p.Ile2Val) 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 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I2V (p.Ile2Val) variant details
- p.Ile2Val
- rs747682986
- ClinGen CA4090562
- ClinVar RCV001313653
- ExAC rs747682986
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.30
- CADD 22.20
- PolyPhen-2 0.09
- SIFT 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.969