T56M (p.Thr56Met) variant of BIN1 (O00499)
T56M (p.Thr56Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T56M (p.Thr56Met) variant details
- p.Thr56Met
- rs758360325
- ClinGen CA1857563
- NCI-TCGA Cosmic COSV9903
- cosmic curated COSV99035
- Uncertain significance
- Myopathy, centronuclear, 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.02
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)