R27G (p.Arg27Gly) variant of PARK7 (Parkinson disease protein 7)
R27G (p.Arg27Gly) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- cosmic curated COSV58580
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.77
- CADD 26.40
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available