A79T (p.Ala79Thr) variant of ATP1A1 (P05023)
A79T (p.Ala79Thr) 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 0.30 / 1. The record also includes population frequency data and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- rs1004452127
- ClinGen CA30068901
- ClinVar RCV002755041
- TOPMed rs1004452127
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.20
- MetaLR 0.20
- MetaSVM -0.78
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available