R66Q (p.Arg66Gln) variant of ANKRD1 (Q15327)
R66Q (p.Arg66Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R66Q (p.Arg66Gln) variant details
- p.Arg66Gln
- rs150797476
- ClinGen CA136829
- ClinVar RCV000038846
- ClinVar RCV000172518
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CDX population (allele frequency 0.011)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)