D14G (p.Asp14Gly) variant of USH1C (Harmonin)
D14G (p.Asp14Gly) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, 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 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D14G (p.Asp14Gly) variant details
- p.Asp14Gly
- ExAC rs753946678
- gnomAD rs753946678
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.20
- CADD 28.30
- PolyPhen-2 0.40
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.557