R51S (p.Arg51Ser) variant of PRKN (O60260)
R51S (p.Arg51Ser) in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R51S (p.Arg51Ser) variant details
- p.Arg51Ser
- TOPMed rs1309785126
- gnomAD rs1309785126
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -1.01
- CADD 20.50
- SIFT 0.72
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.885