D45E (p.Asp45Glu) variant of USH1C (Harmonin)
D45E (p.Asp45Glu) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- rs140319839
- ClinGen CA5905156
- ClinVar RCV002600073
- ESP rs140319839
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.26
- CADD 24.50
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.911