W54R (p.Trp54Arg) variant of PRKN (O60260)
W54R (p.Trp54Arg) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
W54R (p.Trp54Arg) variant details
- p.Trp54Arg
- Ensembl rs1554325654
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.14
- MetaLR 0.09
- MetaSVM -0.79
- CADD 21.30
- PolyPhen-2 0.18
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.815