V67F (p.Val67Phe) variant of PRKN (O60260)
V67F (p.Val67Phe) 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 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V67F (p.Val67Phe) variant details
- p.Val67Phe
- rs1406898777
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- gnomAD rs1406898777
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.83
- MetaLR 0.92
- MetaSVM 1.02
- CADD 23.40
- PolyPhen-2 0.92
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.154