Y25H (p.Tyr25His) variant of USH1C (Harmonin)
Y25H (p.Tyr25His) 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 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y25H (p.Tyr25His) variant details
- p.Tyr25His
- rs751983859
- ClinGen CA5905190
- ClinVar RCV001986415
- ExAC rs751983859
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.45
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.119