I100L (p.Ile100Leu) variant of RPE65 (Retinoid isomerohydrolase)
I100L (p.Ile100Leu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I100L (p.Ile100Leu) variant details
- p.Ile100Leu
- rs142626873
- ClinGen CA902548
- ClinVar RCV001063520
- ClinVar RCV001275334
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.28
- MetaLR 0.48
- MetaSVM -0.37
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)