S65N (p.Ser65Asn) variant of PRKN (O60260)
S65N (p.Ser65Asn) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S65N (p.Ser65Asn) variant details
- p.Ser65Asn
- rs754604402
- ClinGen CA4090454
- ClinVar RCV002036316
- ExAC rs754604402
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.59
- MetaLR 0.57
- MetaSVM 0.23
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.235