L16* (p.Leu16Ter) variant of MYO7A (Unconventional myosin-VIIa)
L16* (p.Leu16Ter) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L16* (p.Leu16Ter) variant details
- p.Leu16Ter
- rs1052030
- ClinGen CA6197010
- ClinVar RCV000664572
- ClinVar RCV000813222
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 38.00
- EBI: Pathogenic (in dbSNP:rs1052030)
- UniProt: Pathogenic (in dbSNP:rs1052030)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)