M32K (p.Met32Lys) variant of USH1C (Harmonin)
M32K (p.Met32Lys) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data, experimental measurements, and structural context.
M32K (p.Met32Lys) variant details
- p.Met32Lys
- ESP rs376949470
- ExAC rs376949470
- TOPMed rs376949470
- gnomAD rs376949470
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.827