T27I (p.Thr27Ile) variant of RPE65 (Retinoid isomerohydrolase)
T27I (p.Thr27Ile) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T27I (p.Thr27Ile) variant details
- p.Thr27Ile
- rs794727245
- ClinGen CA241334
- ClinVar RCV000175585
- TOPMed rs794727245
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.35
- MetaLR 0.67
- MetaSVM 0.10
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available