G7R (p.Gly7Arg) variant of MYO7A (Unconventional myosin-VIIa)
G7R (p.Gly7Arg) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs372509310
- ClinGen CA6197006
- ClinVar RCV000988597
- ClinVar RCV001036437
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.93
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)