V5I (p.Val5Ile) variant of ATP1A1 (P05023)
V5I (p.Val5Ile) 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 0.39 / 1. The record also includes structural context.
V5I (p.Val5Ile) variant details
- p.Val5Ile
- rs756724088
- ClinGen CA341840160
- ClinVar RCV003575755
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.08
- MetaLR 0.49
- MetaSVM -0.13
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available