G19R (p.Gly19Arg) variant of ATP1A1 (P05023)
G19R (p.Gly19Arg) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- gnomAD 1-116384056-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.44
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.12
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Literature evidence available