G110R (p.Gly110Arg) variant of NEB (Nebulin)
G110R (p.Gly110Arg) 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 population frequency data.
G110R (p.Gly110Arg) variant details
- p.Gly110Arg
- rs886043647
- ClinGen CA10605781
- ClinVar RCV000336105
- Ensembl rs886043647
- Uncertain significance
- Missense
- REVEL 0.38
- MetaLR 0.30
- MetaSVM -0.59
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)