G519D (p.Gly519Asp) variant of MYO7A (Unconventional myosin-VIIa)
G519D (p.Gly519Asp) 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 Rare genetic deafness; Usher syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G519D (p.Gly519Asp) variant details
- p.Gly519Asp
- rs111033206
- ClinGen CA278629
- ClinVar RCV000036055
- ClinVar RCV000669343
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Usher syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Usher syndrome; not provided)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)