E27K (p.Glu27Lys) variant of ATP1A2 (P50993)
E27K (p.Glu27Lys) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- gnomAD rs1443866755
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.27
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available