S57* (p.Ser57Ter) variant of MYO15A (Unconventional myosin-XV)
S57* (p.Ser57Ter) in MYO15A (Unconventional myosin-XV) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S57* (p.Ser57Ter) variant details
- p.Ser57Ter
- rs770052089
- ClinGen CA8422778
- ClinVar RCV003677183
- ExAC rs770052089
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available