R67C (p.Arg67Cys) variant of ATP1A1 (P05023)
R67C (p.Arg67Cys) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R67C (p.Arg67Cys) variant details
- p.Arg67Cys
- ExAC rs764680790
- gnomAD rs764680790
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.69
- MetaLR 0.76
- MetaSVM 0.66
- CADD 28.40
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available