T64R (p.Thr64Arg) variant of ATP1A1 (P05023)
T64R (p.Thr64Arg) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
T64R (p.Thr64Arg) variant details
- p.Thr64Arg
- rs1158326714
- ClinGen CA341840714
- ClinVar RCV002694778
- gnomAD rs1158326714
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.65
- MetaLR 0.60
- MetaSVM 0.18
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available