R20G (p.Arg20Gly) variant of PINK1 (Q9BXM7)
R20G (p.Arg20Gly) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- gnomAD 1-20633606-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.40
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available