E113K (p.Glu113Lys) variant of ANKRD1 (Q15327)
E113K (p.Glu113Lys) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E113K (p.Glu113Lys) variant details
- p.Glu113Lys
- rs183324142
- ClinGen CA377552414
- ClinVar RCV001315588
- 1000Genomes rs183324142
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- AlphaMissense 0.10
- MetaLR 0.18
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)