R241H (p.Arg241His) variant of MYO7A (Unconventional myosin-VIIa)
R241H (p.Arg241His) 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 Inborn genetic diseases; Usher syndrome; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R241H (p.Arg241His) variant details
- p.Arg241His
- rs111033284
- ClinGen CA278714
- NCI-TCGA Cosmic COSV6868
- cosmic curated COSV68683
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Usher syndrome; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.92
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Usher syndrome; Retinal dystrophy)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)