R6S (p.Arg6Ser) variant of PRKN (O60260)
R6S (p.Arg6Ser) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- cosmic curated COSV58242
- ExAC rs758661420
- gnomAD rs758661420
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.88
- MetaLR 0.91
- MetaSVM 1.04
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.592