K12N (p.Lys12Asn) variant of USH1C (Harmonin)
K12N (p.Lys12Asn) 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.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- 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 -0.521