P88S (p.Pro88Ser) variant of PRKN (O60260)
P88S (p.Pro88Ser) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P88S (p.Pro88Ser) variant details
- p.Pro88Ser
- ExAC rs753483597
- gnomAD rs753483597
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.12
- MetaLR 0.42
- MetaSVM -0.56
- CADD 5.34
- PolyPhen-2 0.03
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.744