T18S (p.Thr18Ser) variant of RPE65 (Retinoid isomerohydrolase)
T18S (p.Thr18Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T18S (p.Thr18Ser) variant details
- p.Thr18Ser
- rs1645959906
- ClinGen CA340750230
- ClinVar RCV001349633
- Ensembl rs1645959906
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.36
- MetaLR 0.50
- MetaSVM -0.21
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)