R853H (p.Arg853His) variant of MYO7A (Unconventional myosin-VIIa)
R853H (p.Arg853His) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R853H (p.Arg853His) variant details
- p.Arg853His
- rs111033437
- ClinGen CA132255
- ClinVar RCV000036090
- ClinVar RCV000724679
- Likely pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic (in DFNA11)
- UniProt: Pathogenic (in DFNA11)
- Most common in the East Asian population (allele frequency 2.8e-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)