A74V (p.Ala74Val) variant of BIN1 (O00499)
A74V (p.Ala74Val) 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 0.47 / 1. The record also includes population frequency data and structural context.
A74V (p.Ala74Val) variant details
- p.Ala74Val
- gnomAD rs1466528785
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.28
- CADD 24.50
- PolyPhen-2 0.10
- SIFT 0.16
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available