Q18H (p.Gln18His) variant of ATP1A1 (P05023)
Q18H (p.Gln18His) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- gnomAD 1-116384055-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.30
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Amish population (allele frequency 0.043)
- Structural context available
- Literature evidence available