Y13H (p.Tyr13His) variant of NEB (Nebulin)
Y13H (p.Tyr13His) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nemaline myopathy 2; not provided. The record also includes variant effect predictions, population frequency data, experimental measurements, and published literature.
Y13H (p.Tyr13His) variant details
- p.Tyr13His
- rs1347004993
- ClinGen CA348797082
- ClinVar RCV003132928
- ClinVar RCV005060960
- Uncertain significance
- Nemaline myopathy 2; not provided
- Missense
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.08
- CADD 27.80
- SIFT 0.00
- ClinVar: Uncertain significance (Nemaline myopathy 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- NEB SH3 domain domainome 1.0: score -0.688
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)