R83K (p.Arg83Lys) variant of USH1C (Harmonin)
R83K (p.Arg83Lys) 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.
R83K (p.Arg83Lys) variant details
- p.Arg83Lys
- NCI-TCGA Cosmic COSV9913
- cosmic curated COSV99139
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.238