R27Q (p.Arg27Gln) variant of PINK1 (Q9BXM7)
R27Q (p.Arg27Gln) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- gnomAD 1-20633628-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.05
- CADD 12.70
- PolyPhen-2 0.02
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 5.2e-06)
- Structural context available
- Literature evidence available