G96S (p.Gly96Ser) variant of BIN1 (O00499)
G96S (p.Gly96Ser) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myopathy, centronuclear, 2; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G96S (p.Gly96Ser) variant details
- p.Gly96Ser
- rs769724273
- ClinGen CA1857526
- ClinVar RCV000819262
- ClinVar RCV004797882
- Uncertain significance
- Myopathy, centronuclear, 2; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.48
- CADD 24.70
- PolyPhen-2 0.85
- SIFT 0.02
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2; Inborn genetic diseases; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)