A68V (p.Ala68Val) variant of ATP1A1 (P05023)
A68V (p.Ala68Val) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- TOPMed rs1286662752
- gnomAD rs1286662752
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.66
- MetaLR 0.44
- MetaSVM -0.11
- CADD 25.70
- PolyPhen-2 0.64
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available