D44G (p.Asp44Gly) variant of ANKRD1 (Q15327)
D44G (p.Asp44Gly) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D44G (p.Asp44Gly) variant details
- p.Asp44Gly
- rs749040843
- ClinGen CA5598836
- ClinVar RCV000413576
- ClinVar RCV001836810
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.27
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.14
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)