A46S (p.Ala46Ser) variant of PRKN (O60260)
A46S (p.Ala46Ser) 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 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- rs75860381
- ClinGen CA366477246
- ClinVar RCV001231427
- 1000Genomes rs75860381
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.51
- MetaLR 0.41
- MetaSVM -0.19
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Benign (in PARK2)
- UniProt: Benign (in PARK2)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.619