K73E (p.Lys73Glu) variant of ANKRD1 (Q15327)
K73E (p.Lys73Glu) 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 0.31 / 1. The record also includes population frequency data and structural context.
K73E (p.Lys73Glu) variant details
- p.Lys73Glu
- rs1302708705
- ClinGen CA377553059
- ClinVar RCV002432865
- gnomAD rs1302708705
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.15
- CADD 23.30
- PolyPhen-2 0.22
- SIFT 0.21
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available