P88L (p.Pro88Leu) variant of PRKN (O60260)
P88L (p.Pro88Leu) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- cosmic curated COSV58282
- ExAC rs779465584
- gnomAD rs779465584
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.10
- MetaLR 0.43
- MetaSVM -0.52
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.744