K72E (p.Lys72Glu) variant of ANKRD1 (Q15327)
K72E (p.Lys72Glu) 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; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K72E (p.Lys72Glu) variant details
- p.Lys72Glu
- rs1564574800
- ClinGen CA377553076
- ClinVar RCV000701748
- ClinVar RCV002424690
- Uncertain significance
- Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)