K63T (p.Lys63Thr) variant of PARK7 (Parkinson disease protein 7)
K63T (p.Lys63Thr) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K63T (p.Lys63Thr) variant details
- p.Lys63Thr
- gnomAD 1-7965421-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.16
- MetaLR 0.25
- MetaSVM -0.80
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available