L48M (p.Leu48Met) variant of USH1C (Harmonin)
L48M (p.Leu48Met) in USH1C (Harmonin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.
L48M (p.Leu48Met) variant details
- p.Leu48Met
- NCI-TCGA Cosmic COSV9914
- cosmic curated COSV99142
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.41