R657W (p.Arg657Trp) variant of MYO7A (Unconventional myosin-VIIa)
R657W (p.Arg657Trp) 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 not provided; Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R657W (p.Arg657Trp) variant details
- p.Arg657Trp
- rs878853236
- ClinGen CA16616838
- NCI-TCGA Cosmic COSV6868
- cosmic curated COSV68686
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.92
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant nonsyndromic hearing loss 11; A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)