E117K (p.Glu117Lys) variant of ANKRD1 (Q15327)
E117K (p.Glu117Lys) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E117K (p.Glu117Lys) variant details
- p.Glu117Lys
- rs1847400805
- ClinGen CA377552379
- ClinVar RCV004413437
- gnomAD rs1847400805
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.14
- CADD 24.60
- PolyPhen-2 0.52
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00023)
- Structural context available