Y25C (p.Tyr25Cys) variant of USH1C (Harmonin)
Y25C (p.Tyr25Cys) 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 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y25C (p.Tyr25Cys) variant details
- p.Tyr25Cys
- rs536191185
- ClinGen CA5905189
- ClinVar RCV001898706
- 1000Genomes rs536191185
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.50
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.119