A31D (p.Ala31Asp) variant of PRKN (O60260)
A31D (p.Ala31Asp) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A31D (p.Ala31Asp) variant details
- p.Ala31Asp
- TOPMed rs1285335787
- gnomAD rs1285335787
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.66
- MetaLR 0.58
- MetaSVM 0.16
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.13
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.018