L1197P (p.Leu1197Pro) variant of MYO7A (Unconventional myosin-VIIa)
L1197P (p.Leu1197Pro) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hearing loss, autosomal recessive; Deafness. The record also includes published literature and structural context.
L1197P (p.Leu1197Pro) variant details
- p.Leu1197Pro
- rs1565430886
- ClinGen CA381947007
- ClinVar RCV000679826
- ClinVar RCV001291477
- Pathogenic/Likely pathogenic
- Hearing loss, autosomal recessive; Deafness
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hearing loss, autosomal recessive; Deafness)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)