L59S (p.Leu59Ser) variant of ATP1A1 (P05023)
L59S (p.Leu59Ser) 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 0.52 / 1. The record also includes structural context.
L59S (p.Leu59Ser) variant details
- p.Leu59Ser
- rs2101038960
- ClinGen CA341840555
- ClinVar RCV001754846
- Ensembl rs2101038960
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 0.29
- MetaLR 0.56
- MetaSVM 0.09
- PolyPhen-2 0.17
- SIFT 0.03
- MutPred 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available