P25R (p.Pro25Arg) variant of RPE65 (Retinoid isomerohydrolase)
P25R (p.Pro25Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- ExAC rs199683808
- TOPMed rs199683808
- gnomAD rs199683808
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.85
- MetaLR 0.91
- MetaSVM 0.97
- CADD 25.40
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available