K12N (p.Lys12Asn) variant of PARK7 (Parkinson disease protein 7)
K12N (p.Lys12Asn) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- gnomAD 1-7962821-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.22
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available