K22R (p.Lys22Arg) variant of ATP1A1 (P05023)
K22R (p.Lys22Arg) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K22R (p.Lys22Arg) variant details
- p.Lys22Arg
- gnomAD 1-116384066-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.42
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)
- Structural context available
- Literature evidence available