F46Y (p.Phe46Tyr) variant of USH2A (Usherin)
F46Y (p.Phe46Tyr) in USH2A (Usherin) 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 0.24 / 1. The record also includes population frequency data and structural context.
F46Y (p.Phe46Tyr) variant details
- p.Phe46Tyr
- rs2102789019
- ClinGen CA344904879
- cosmic curated COSV10813
- ClinVar RCV001870902
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- CADD 24.60
- PolyPhen-2 0.49
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available