S22N (p.Ser22Asn) variant of PRKN (O60260)
S22N (p.Ser22Asn) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- Ensembl rs2128167759
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.29
- MetaLR 0.26
- MetaSVM -0.74
- CADD 19.00
- PolyPhen-2 0.12
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.931