Y157H (p.Tyr157His) variant of BIN1 (O00499)
Y157H (p.Tyr157His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y157H (p.Tyr157His) variant details
- p.Tyr157His
- rs1553466026
- ClinGen CA348367773
- ClinVar RCV000545195
- ClinVar RCV001770423
- Uncertain significance
- Myopathy, centronuclear, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.43
- CADD 27.40
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)