I85F (p.Ile85Phe) variant of USH2A (Usherin)
I85F (p.Ile85Phe) 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 0.07 / 1. The record also includes population frequency data and structural context.
I85F (p.Ile85Phe) variant details
- p.Ile85Phe
- rs770983063
- ClinGen CA344904364
- ClinVar RCV002644341
- ExAC rs770983063
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0701
- REVEL 0.07
- CADD 3.04
- PolyPhen-2 0.22
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available