T65P (p.Thr65Pro) variant of USH2A (Usherin)
T65P (p.Thr65Pro) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
T65P (p.Thr65Pro) variant details
- p.Thr65Pro
- 1000Genomes rs200741942
- ExAC rs200741942
- gnomAD rs200741942
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.06
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available