D39V (p.Asp39Val) variant of PRKN (O60260)
D39V (p.Asp39Val) 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 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D39V (p.Asp39Val) variant details
- p.Asp39Val
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.84
- MetaLR 0.49
- MetaSVM 0.05
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.502