H94Q (p.His94Gln) variant of USH1C (Harmonin)
H94Q (p.His94Gln) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H94Q (p.His94Gln) variant details
- p.His94Gln
- 1000Genomes rs554615192
- ExAC rs554615192
- TOPMed rs554615192
- gnomAD rs554615192
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.13
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available