V130M (p.Val130Met) variant of ATP1A3 (P13637)
V130M (p.Val130Met) in ATP1A3 (P13637) 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 0.73 / 1. The record also includes population frequency data and structural context.
V130M (p.Val130Met) variant details
- p.Val130Met
- gnomAD rs1555865397
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.98
- MetaLR 0.71
- MetaSVM 0.53
- CADD 24.80
- PolyPhen-2 0.03
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available