L116R (p.Leu116Arg) variant of GABRB3 (P28472)
L116R (p.Leu116Arg) in GABRB3 (P28472) 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 structural context.
L116R (p.Leu116Arg) variant details
- p.Leu116Arg
- rs2504329497
- ClinGen CA391460905
- ClinVar RCV003237097
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available