C106Y (p.Cys106Tyr) variant of RPE65 (Retinoid isomerohydrolase)
C106Y (p.Cys106Tyr) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy; Leber congenital amaurosis 2; Retinitis pigmentosa 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C106Y (p.Cys106Tyr) variant details
- p.Cys106Tyr
- rs142052358
- ClinGen CA902546
- ClinVar RCV002918488
- ClinVar RCV003883849
- Uncertain significance
- Retinal dystrophy; Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.20
- MetaLR 0.37
- MetaSVM -0.76
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Retinal dystrophy; Leber congenital amaurosis 2; Retinitis pigme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- 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)