S22L (p.Ser22Leu) variant of NPC1 (O15118)
S22L (p.Ser22Leu) 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.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- NCI-TCGA Cosmic COSV9934
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available