P27T (p.Pro27Thr) variant of RHO (Rhodopsin)
P27T (p.Pro27Thr) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- TOPMed rs560600890
- gnomAD rs560600890
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.93
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available