I62V (p.Ile62Val) variant of USH1C (Harmonin)
I62V (p.Ile62Val) in USH1C (Harmonin) is a missense change. The record also includes experimental measurements and structural context.
I62V (p.Ile62Val) variant details
- p.Ile62Val
- ExAC rs776833569
- gnomAD rs776833569
- Missense
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.126