E130V (p.Glu130Val) variant of ANKRD1 (Q15327)
E130V (p.Glu130Val) 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 0.46 / 1. The record also includes published literature and structural context.
E130V (p.Glu130Val) variant details
- p.Glu130Val
- rs1321608531
- ClinGen CA377552296
- ClinVar RCV002640559
- TOPMed rs1321608531
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.46
- MetaLR 0.32
- MetaSVM -0.62
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.42
- ClinVar: Uncertain significance (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)