L30I (p.Leu30Ile) variant of GBA1 (P04062)
L30I (p.Leu30Ile) in GBA1 (P04062) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
L30I (p.Leu30Ile) variant details
- p.Leu30Ile
- NCI-TCGA Cosmic COSV5916
- cosmic curated COSV59169
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available