R1168Q (p.Arg1168Gln) variant of MYO7A (Unconventional myosin-VIIa)
R1168Q (p.Arg1168Gln) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R1168Q (p.Arg1168Gln) variant details
- p.Arg1168Gln
- rs797044516
- ClinGen CA184505
- cosmic curated COSV68685
- ClinVar RCV000156269
- Pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- REVEL 0.98
- CADD 36.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Usher syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)