V135E (p.Val135Glu) variant of ANKRD1 (Q15327)
V135E (p.Val135Glu) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V135E (p.Val135Glu) variant details
- p.Val135Glu
- rs995351186
- ClinGen CA211424298
- ClinVar RCV000815319
- ClinVar RCV002325601
- Uncertain significance
- Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.68
- AlphaMissense 0.44
- MetaLR 0.37
- MetaSVM -0.29
- CADD 29.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)