L133M (p.Leu133Met) variant of HTT (Huntingtin)
L133M (p.Leu133Met) in HTT (Huntingtin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
L133M (p.Leu133Met) variant details
- p.Leu133Met
- NCI-TCGA Cosmic COSV1007
- NCI-TCGA Cosmic COSV6186
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.56
- MetaSVM -0.02
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available