L58I (p.Leu58Ile) variant of NPC1 (O15118)
L58I (p.Leu58Ile) in NPC1 (O15118) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
L58I (p.Leu58Ile) variant details
- p.Leu58Ile
- NCI-TCGA Cosmic COSV5257
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available