H70N (p.His70Asn) variant of USH1C (Harmonin)
H70N (p.His70Asn) 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.
H70N (p.His70Asn) variant details
- p.His70Asn
- cosmic curated COSV10499
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.249