T98A (p.Thr98Ala) variant of USH2A (Usherin)
T98A (p.Thr98Ala) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
T98A (p.Thr98Ala) variant details
- p.Thr98Ala
- TOPMed rs2039686492
- gnomAD rs2039686492
- Missense
- Variant Prioritization Score for Impact Estimate 0.0451
- REVEL 0.02
- CADD 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available