R7P (p.Arg7Pro) variant of ATP1A1 (P05023)
R7P (p.Arg7Pro) in ATP1A1 (P05023) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- ESP rs146195513
- TOPMed rs146195513
- gnomAD rs146195513
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.55
- MetaLR 0.62
- MetaSVM 0.28
- CADD 27.30
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0012)
- Structural context available