H34R (p.His34Arg) variant of USH1C (Harmonin)
H34R (p.His34Arg) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Usher syndrome type 1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H34R (p.His34Arg) variant details
- p.His34Arg
- rs75157409
- ClinGen CA142283
- ClinVar RCV000041246
- ClinVar RCV000959167
- Benign/Likely benign
- not specified; not provided; Usher syndrome type 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.29
- CADD 25.30
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Benign/Likely benign (not specified; not provided; Usher syndrome type 1C)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.0298
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)