I3V (p.Ile3Val) variant of RPE65 (Retinoid isomerohydrolase)
I3V (p.Ile3Val) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I3V (p.Ile3Val) variant details
- p.Ile3Val
- rs777461552
- ClinGen CA902661
- ClinVar RCV001239510
- ClinVar RCV001834093
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.24
- MetaLR 0.32
- MetaSVM -0.56
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Autosomal Recessive RPE65-Related Retinal Degeneration. (PMID 31725251)