I84V (p.Ile84Val) variant of RPE65 (Retinoid isomerohydrolase)
I84V (p.Ile84Val) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I84V (p.Ile84Val) variant details
- p.Ile84Val
- TOPMed rs1261322768
- gnomAD rs1261322768
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.23
- MetaLR 0.37
- MetaSVM -0.52
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available