R7L (p.Arg7Leu) variant of ATP1A1 (P05023)
R7L (p.Arg7Leu) 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 0.59 / 1. The record also includes population frequency data and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- rs146195513
- ClinGen CA341840174
- ClinVar RCV003406690
- ESP rs146195513
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.52
- MetaLR 0.57
- MetaSVM 0.16
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available