Q45K (p.Gln45Lys) variant of PARK7 (Parkinson disease protein 7)
Q45K (p.Gln45Lys) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q45K (p.Gln45Lys) variant details
- p.Gln45Lys
- cosmic curated COSV58579
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.26
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available