G104D (p.Gly104Asp) variant of USH1C (Harmonin)
G104D (p.Gly104Asp) 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; Usher syndrome type 1; Usher syndrome type 1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G104D (p.Gly104Asp) variant details
- p.Gly104Asp
- rs1317951509
- ClinGen CA379797120
- ClinVar RCV000669659
- ClinVar RCV001004554
- Likely pathogenic
- not provided; Usher syndrome type 1; Usher syndrome type 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.90
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Usher syndrome type 1; Usher syndrome type 1C)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)