R3Q (p.Arg3Gln) variant of USH1C (Harmonin)
R3Q (p.Arg3Gln) 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.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- NCI-TCGA Cosmic COSV5001
- cosmic curated COSV50014
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.0922