R143Q (p.Arg143Gln) variant of BIN1 (O00499)
R143Q (p.Arg143Gln) in BIN1 (O00499) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Myopathy, centronuclear, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R143Q (p.Arg143Gln) variant details
- p.Arg143Gln
- ExAC rs780463774
- gnomAD rs780463774
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.75
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available