P12L (p.Pro12Leu) variant of RHO (Rhodopsin)
P12L (p.Pro12Leu) in RHO (Rhodopsin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD rs1198077854
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- AlphaMissense 0.70
- MetaLR 0.98
- MetaSVM 1.04
- CADD 25.60
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available