P64Q (p.Pro64Gln) variant of USH1C (Harmonin)
P64Q (p.Pro64Gln) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
P64Q (p.Pro64Gln) variant details
- p.Pro64Gln
- ExAC rs758959670
- gnomAD rs758959670
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.0931