T4A (p.Thr4Ala) variant of RHO (Rhodopsin)
T4A (p.Thr4Ala) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- TOPMed rs2084755534
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.80
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available