D120H (p.Asp120His) variant of ANKRD1 (Q15327)
D120H (p.Asp120His) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D120H (p.Asp120His) variant details
- p.Asp120His
- rs778238821
- ClinGen CA377552359
- ClinVar RCV003529206
- ClinVar RCV006343027
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.45
- CADD 28.40
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)