K12E (p.Lys12Glu) variant of PARK7 (Parkinson disease protein 7)
K12E (p.Lys12Glu) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- gnomAD rs1385080898
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.40
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available