E40K (p.Glu40Lys) variant of ANKRD1 (Q15327)
E40K (p.Glu40Lys) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs1316020181
- ClinGen CA377553852
- ClinVar RCV001767407
- ClinVar RCV006557663
- Uncertain significance
- not provided; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- AlphaMissense 0.59
- MetaLR 0.30
- MetaSVM -0.68
- PolyPhen-2 0.70
- SIFT 0.02
- EVE 0.49
- ClinVar: Uncertain significance (not provided; ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)