Q18* (p.Gln18Ter) variant of MYO7A (Unconventional myosin-VIIa)
Q18* (p.Gln18Ter) in MYO7A (Unconventional myosin-VIIa) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- rs1555051455
- ClinGen CA381947603
- ClinVar RCV000610416
- ClinVar RCV000668877
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)