R7H (p.Arg7His) variant of ATP1A1 (P05023)
R7H (p.Arg7His) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, 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 0.49 / 1. The record also includes population frequency data and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- rs146195513
- ClinGen CA30066711
- ClinVar RCV003849944
- ESP rs146195513
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.32
- MetaLR 0.55
- MetaSVM -0.05
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0066)
- Structural context available