D86H (p.Asp86His) variant of ANKRD1 (Q15327)
D86H (p.Asp86His) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D86H (p.Asp86His) variant details
- p.Asp86His
- rs573892607
- ClinGen CA175247
- ClinVar RCV000150159
- ClinVar RCV001417860
- Conflicting interpretations
- Cardiovascular phenotype; not specified; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.41
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; ANKRD1-related dilated)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)