R66W (p.Arg66Trp) variant of BIN1 (O00499)
R66W (p.Arg66Trp) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Myopathy, centronuclear, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R66W (p.Arg66Trp) variant details
- p.Arg66Trp
- rs767159511
- ClinGen CA1857559
- cosmic curated COSV10636
- ClinVar RCV003486027
- Uncertain significance
- Inborn genetic diseases; Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.18
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)