E22K (p.Glu22Lys) variant of ANKRD1 (Q15327)
E22K (p.Glu22Lys) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs1589510880
- ClinGen CA377554096
- ClinVar RCV000811314
- Ensembl rs1589510880
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.10
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.33
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)