P112L (p.Pro112Leu) variant of NEB (Nebulin)
P112L (p.Pro112Leu) in NEB (Nebulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Nemaline myopathy 2. The record also includes variant effect predictions and population frequency data.
P112L (p.Pro112Leu) variant details
- p.Pro112Leu
- ExAC rs768281385
- gnomAD rs768281385
- Uncertain significance
- Nemaline myopathy 2
- Missense
- REVEL 0.38
- MetaLR 0.03
- MetaSVM -1.06
- CADD 25.00
- PolyPhen-2 0.37
- SIFT 1.00
- ClinVar: Uncertain significance (Nemaline myopathy 2)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)