Q35H (p.Gln35His) variant of USH1C (Harmonin)
Q35H (p.Gln35His) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q35H (p.Gln35His) variant details
- p.Gln35His
- rs369151395
- ClinGen CA218465486
- ClinVar RCV000728072
- ESP rs369151395
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.895