L124V (p.Leu124Val) variant of GABRB3 (P28472)
L124V (p.Leu124Val) in GABRB3 (P28472) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in DEE43. The record also includes structural context.
L124V (p.Leu124Val) variant details
- p.Leu124Val
- NCI-TCGA Cosmic COSV1001
- NCI-TCGA Cosmic COSV5467
- cosmic curated COSV54673
- Variant assessed as somatic; moderate impact.
- in DEE43
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in DEE43)
- Structural context available