R7S (p.Arg7Ser) variant of ATP1A1 (P05023)
R7S (p.Arg7Ser) 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 0.55 / 1. The record also includes population frequency data and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- gnomAD rs1429384765
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.46
- MetaLR 0.51
- MetaSVM -0.28
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00059)
- Structural context available