R74Q (p.Arg74Gln) variant of ATP1A1 (P05023)
R74Q (p.Arg74Gln) 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 0.57 / 1. The record also includes population frequency data and structural context.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- rs564786229
- ClinGen CA1025076
- ClinVar RCV003118998
- 1000Genomes rs564786229
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.54
- MetaLR 0.25
- MetaSVM -0.68
- CADD 23.80
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available