P77Q (p.Pro77Gln) variant of ATP1A3 (P13637)
P77Q (p.Pro77Gln) in ATP1A3 (P13637) 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 0.83 / 1. The record also includes structural context.
P77Q (p.Pro77Gln) variant details
- p.Pro77Gln
- rs987457417
- ClinGen CA406056615
- ClinVar RCV003332630
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 0.88
- MetaLR 0.85
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available