K24N (p.Lys24Asn) variant of PINK1 (Q9BXM7)
K24N (p.Lys24Asn) in PINK1 (Q9BXM7) 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.
K24N (p.Lys24Asn) variant details
- p.Lys24Asn
- gnomAD 1-20633620-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available