V30I (p.Val30Ile) variant of PRKN (O60260)
V30I (p.Val30Ile) in PRKN (O60260) 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 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10062
- TOPMed rs1790157119
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.22
- MetaLR 0.26
- MetaSVM -0.60
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0257