E11D (p.Glu11Asp) variant of ATP1A1 (P05023)
E11D (p.Glu11Asp) 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 0.35 / 1. The record also includes population frequency data and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- rs2525807307
- ClinGen CA341840204
- ClinVar RCV002297435
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.49
- MetaLR 0.47
- MetaSVM -0.55
- CADD 7.95
- PolyPhen-2 0.04
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00066)
- Structural context available