A40P (p.Ala40Pro) variant of USH1C (Harmonin)
A40P (p.Ala40Pro) 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.
A40P (p.Ala40Pro) variant details
- p.Ala40Pro
- NCI-TCGA Cosmic COSV5002
- cosmic curated COSV50026
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.119