D28N (p.Asp28Asn) variant of USH1C (Harmonin)
D28N (p.Asp28Asn) 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 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- ESP rs143192514
- ExAC rs143192514
- gnomAD rs143192514
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.19
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.738