G104R (p.Gly104Arg) variant of USH1C (Harmonin)
G104R (p.Gly104Arg) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G104R (p.Gly104Arg) variant details
- p.Gly104Arg
- rs1387867750
- ClinGen CA379797124
- ClinVar RCV001733495
- TOPMed rs1387867750
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.82
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available