K25Q (p.Lys25Gln) variant of ATP1A1 (P05023)
K25Q (p.Lys25Gln) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K25Q (p.Lys25Gln) variant details
- p.Lys25Gln
- gnomAD 1-116384074-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.44
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.07
- Most common in the Amish population (allele frequency 0.043)
- Structural context available
- Literature evidence available