G1497R (p.Gly1497Arg) variant of MYO7A (Unconventional myosin-VIIa)
G1497R (p.Gly1497Arg) 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 Usher syndrome; not provided; Autosomal dominant nonsyndromic hearing loss 11. 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.
G1497R (p.Gly1497Arg) variant details
- p.Gly1497Arg
- rs751769391
- ClinGen CA381950296
- cosmic curated COSV10751
- ClinVar RCV000988613
- Pathogenic/Likely pathogenic
- Usher syndrome; not provided; Autosomal dominant nonsyndromic hearing loss 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.95
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; not provided; Autosomal dominant nonsyndromic he)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)