T54A (p.Thr54Ala) variant of USH2A (Usherin)
T54A (p.Thr54Ala) in USH2A (Usherin) is a missense change. 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.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- TOPMed rs2039689666
- Missense
- Variant Prioritization Score for Impact Estimate 0.0704
- REVEL 0.08
- CADD 0.97
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available