R53C (p.Arg53Cys) variant of ATP1A1 (P05023)
R53C (p.Arg53Cys) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R53C (p.Arg53Cys) variant details
- p.Arg53Cys
- rs747334872
- ClinGen CA1025031
- ClinVar RCV001956755
- ExAC rs747334872
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.53
- MetaLR 0.40
- MetaSVM -0.28
- CADD 25.40
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available