Q58* (p.Gln58Ter) variant of ANKRD1 (Q15327)
Q58* (p.Gln58Ter) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- rs1290627165
- ClinGen CA377553476
- ClinVar RCV003829707
- gnomAD rs1290627165
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)