R89C (p.Arg89Cys) variant of USH1C (Harmonin)
R89C (p.Arg89Cys) in USH1C (Harmonin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs764346200
- ExAC rs764346200
- gnomAD rs764346200
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.31
- AlphaMissense 0.35
- MetaLR 0.09
- MetaSVM -1.03
- CADD 32.00
- PolyPhen-2 0.99
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.295