F37Y (p.Phe37Tyr) variant of USH2A (Usherin)
F37Y (p.Phe37Tyr) 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 0.39 / 1. The record also includes population frequency data and structural context.
F37Y (p.Phe37Tyr) variant details
- p.Phe37Tyr
- rs2039690517
- ClinGen CA344905005
- ClinVar RCV003013731
- TOPMed rs2039690517
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.32
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available