I72V (p.Ile72Val) variant of NEB (Nebulin)
I72V (p.Ile72Val) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
I72V (p.Ile72Val) variant details
- p.Ile72Val
- rs1553698165
- ClinGen CA348795044
- ClinVar RCV000641341
- Ensembl rs1553698165
- Uncertain significance
- Missense
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)