V23I (p.Val23Ile) variant of PARK7 (Parkinson disease protein 7)
V23I (p.Val23Ile) in PARK7 (Parkinson disease protein 7) 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 0.47 / 1. The record also includes population frequency data and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- rs757247182
- ClinGen CA569418
- ClinVar RCV000993894
- ExAC rs757247182
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.28
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available