R42C (p.Arg42Cys) variant of PRKN (O60260)
R42C (p.Arg42Cys) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R42C (p.Arg42Cys) variant details
- p.Arg42Cys
- rs577232474
- ClinGen CA4090506
- cosmic curated COSV10966
- ClinVar RCV001458156
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.61
- MetaLR 0.23
- MetaSVM -0.65
- CADD 23.80
- PolyPhen-2 0.18
- SIFT 0.06
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in PARK2 and PARK)
- UniProt: Likely benign (in PARK2 and PARK)
- Most common in the 1KG:GIH population (allele frequency 0.01)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.499