D2E (p.Asp2Glu) variant of USH1C (Harmonin)
D2E (p.Asp2Glu) 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 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- ExAC rs753871690
- gnomAD rs753871690
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.14
- CADD 18.90
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.456