R66* (p.Arg66Ter) variant of ANKRD1 (Q15327)
R66* (p.Arg66Ter) in ANKRD1 (Q15327) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R66* (p.Arg66Ter) variant details
- p.Arg66Ter
- rs397517249
- ClinGen CA5598823
- ClinVar RCV003529179
- ClinVar RCV006343024
- Benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 37.00
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)