T94A (p.Thr94Ala) variant of RPE65 (Retinoid isomerohydrolase)
T94A (p.Thr94Ala) 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; not provided. The record also includes published literature and structural context.
T94A (p.Thr94Ala) variant details
- p.Thr94Ala
- rs1645930710
- ClinGen CA340748410
- ClinVar RCV001350344
- ClinVar RCV004691428
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2; not provided
- Missense
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2; not provi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)