R66G (p.Arg66Gly) variant of ANKRD1 (Q15327)
R66G (p.Arg66Gly) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R66G (p.Arg66Gly) variant details
- p.Arg66Gly
- rs397517249
- ClinGen CA136826
- ClinVar RCV000038845
- ClinVar RCV000588271
- Benign/Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.27
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.34
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ITU population (allele frequency 0.025)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)