V20I (p.Val20Ile) variant of PARK7 (Parkinson disease protein 7)
V20I (p.Val20Ile) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10009
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available