Y144D (p.Tyr144Asp) variant of RPE65 (Retinoid isomerohydrolase)
Y144D (p.Tyr144Asp) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Y144D (p.Tyr144Asp) variant details
- p.Tyr144Asp
- rs61752880
- ClinGen CA226550
- ClinVar RCV000085198
- ClinVar RCV001854498
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.98
- MetaLR 0.92
- MetaSVM 1.07
- CADD 27.20
- PolyPhen-2 0.99
- 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 1.8e-06)
- Structural context available
- Cited in: Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. (PMID 11462243)
- Cited in: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID 17724218)