R395H (p.Arg395His) variant of MYO7A (Unconventional myosin-VIIa)
R395H (p.Arg395His) 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; Usher syndrome type 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R395H (p.Arg395His) variant details
- p.Arg395His
- rs387906700
- ClinGen CA128772
- cosmic curated COSV68687
- ClinVar RCV000022817
- Pathogenic/Likely pathogenic
- Usher syndrome; not provided; Usher syndrome type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.84
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; not provided; Usher syndrome type 1B)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 6.2e-05)
- Structural context available
- Cited in: Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. (PMID 20132242)