D135N (p.Asp135Asn) variant of BIN1 (O00499)
D135N (p.Asp135Asn) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D135N (p.Asp135Asn) variant details
- p.Asp135Asn
- rs766894632
- ClinGen CA1857493
- NCI-TCGA Cosmic COSV5212
- cosmic curated COSV52120
- Uncertain significance
- Myopathy, centronuclear, 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.37
- CADD 24.40
- PolyPhen-2 0.12
- SIFT 0.00
- 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 3e-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)