P12T (p.Pro12Thr) variant of RHO (Rhodopsin)
P12T (p.Pro12Thr) 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.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- ExAC rs773022490
- gnomAD rs773022490
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.94
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available