K4Q (p.Lys4Gln) variant of PARK7 (Parkinson disease protein 7)
K4Q (p.Lys4Gln) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
K4Q (p.Lys4Gln) variant details
- p.Lys4Gln
- gnomAD 1-7962795-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.71
- CADD 29.10
- PolyPhen-2 0.88
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available