D62A (p.Asp62Ala) variant of PRKN (O60260)
D62A (p.Asp62Ala) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D62A (p.Asp62Ala) variant details
- p.Asp62Ala
- gnomAD rs1779948064
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.02
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.942