R123L (p.Arg123Leu) variant of NEB (Nebulin)
R123L (p.Arg123Leu) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
R123L (p.Arg123Leu) variant details
- p.Arg123Leu
- rs546250852
- ClinGen CA348793530
- ClinVar RCV003131722
- 1000Genomes rs546250852
- Uncertain significance
- not provided
- Missense
- REVEL 0.24
- MetaLR 0.09
- MetaSVM -1.06
- CADD 23.80
- PolyPhen-2 0.26
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)