Q18R (p.Gln18Arg) variant of ATP1A1 (P05023)
Q18R (p.Gln18Arg) 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 0.37 / 1. The record also includes population frequency data and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- rs2101037917
- ClinGen CA341840246
- ClinVar RCV001921361
- ClinVar RCV003892962
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.33
- MetaLR 0.49
- MetaSVM -0.20
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0014)
- Structural context available