S22G (p.Ser22Gly) variant of PRKN (O60260)
S22G (p.Ser22Gly) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- ExAC rs768213475
- gnomAD rs768213475
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.49
- MetaLR 0.48
- MetaSVM -0.12
- CADD 24.00
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.931