G44E (p.Gly44Glu) variant of USH1C (Harmonin)
G44E (p.Gly44Glu) in USH1C (Harmonin) is a missense change. The record also includes experimental measurements and structural context.
G44E (p.Gly44Glu) variant details
- p.Gly44Glu
- gnomAD rs1172593092
- Missense
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.0945