T96P (p.Thr96Pro) variant of USH2A (Usherin)
T96P (p.Thr96Pro) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
T96P (p.Thr96Pro) variant details
- p.Thr96Pro
- ExAC rs557642490
- TOPMed rs557642490
- gnomAD rs557642490
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0351
- REVEL 0.01
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available