T101I (p.Thr101Ile) variant of RPE65 (Retinoid isomerohydrolase)
T101I (p.Thr101Ile) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
T101I (p.Thr101Ile) variant details
- p.Thr101Ile
- rs1444234037
- ClinGen CA340748300
- ClinVar RCV001073555
- ClinVar RCV001089888
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.88
- MetaLR 0.88
- MetaSVM 0.82
- CADD 26.50
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson… (PMID 17964524)
- Cited in: Predicting the pathogenicity of RPE65 mutations. (PMID 19431183)