R67H (p.Arg67His) variant of ATP1A1 (P05023)
R67H (p.Arg67His) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R67H (p.Arg67His) variant details
- p.Arg67His
- cosmic curated COSV55192
- TOPMed rs1159387961
- gnomAD rs1159387961
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.51
- MetaLR 0.72
- MetaSVM 0.58
- CADD 25.70
- PolyPhen-2 0.45
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available