L123R (p.Leu123Arg) variant of ATXN1 (Ataxin-1)
L123R (p.Leu123Arg) in ATXN1 (Ataxin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
L123R (p.Leu123Arg) variant details
- p.Leu123Arg
- NCI-TCGA Cosmic COSV5521
- cosmic curated COSV55213
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available