R9H (p.Arg9His) variant of PINK1 (Q9BXM7)
R9H (p.Arg9His) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- gnomAD 1-20633574-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.45
- CADD 28.30
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available