G1159V (p.Gly1159Val) variant of MYO7A (Unconventional myosin-VIIa)
G1159V (p.Gly1159Val) 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 MYO7A-related disorder; Hearing loss; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G1159V (p.Gly1159Val) variant details
- p.Gly1159Val
- rs199897298
- ClinGen CA132291
- ClinVar RCV000036110
- ClinVar RCV000312187
- Pathogenic/Likely pathogenic
- MYO7A-related disorder; Hearing loss; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (MYO7A-related disorder; Hearing loss; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.0004)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)