G19C (p.Gly19Cys) variant of ATP1A1 (P05023)
G19C (p.Gly19Cys) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G19C (p.Gly19Cys) variant details
- p.Gly19Cys
- gnomAD rs1446413621
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.35
- MetaLR 0.61
- MetaSVM -0.11
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the 1KG:CHS population (allele frequency 0.0098)
- Structural context available