R1240Q (p.Arg1240Gln) variant of MYO7A (Unconventional myosin-VIIa)
R1240Q (p.Arg1240Gln) 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 Monogenic hearing loss; MYO7A-related disorder; Usher syndrome. 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.
R1240Q (p.Arg1240Gln) variant details
- p.Arg1240Gln
- rs111033178
- ClinGen CA278657
- ClinVar RCV000036122
- ClinVar RCV000256123
- Pathogenic/Likely pathogenic
- Monogenic hearing loss; MYO7A-related disorder; Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic hearing loss; MYO7A-related disorder; Usher syndrome)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Population evidence available
- Structural context available
- Cited in: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (PMID 10930322)
- Cited in: Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and… (PMID 16679490)