D24E (p.Asp24Glu) variant of USH1C (Harmonin)
D24E (p.Asp24Glu) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D24E (p.Asp24Glu) variant details
- p.Asp24Glu
- ExAC rs759929001
- gnomAD rs759929001
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.24
- CADD 22.80
- PolyPhen-2 0.95
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.298