W60* (p.Trp60Ter) variant of ANKRD1 (Q15327)
W60* (p.Trp60Ter) in ANKRD1 (Q15327) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W60* (p.Trp60Ter) variant details
- p.Trp60Ter
- rs760365338
- ClinGen CA335067
- ClinVar RCV000802108
- ClinVar RCV002408805
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)