K7R (p.Lys7Arg) variant of BIN1 (O00499)
K7R (p.Lys7Arg) 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 0.37 / 1. The record also includes population frequency data and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- gnomAD rs1235619869
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.20
- CADD 25.10
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available