A145T (p.Ala145Thr) variant of RPE65 (Retinoid isomerohydrolase)
A145T (p.Ala145Thr) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A145T (p.Ala145Thr) variant details
- p.Ala145Thr
- rs767528365
- ClinGen CA902508
- ClinVar RCV001244171
- ClinVar RCV001701309
- Conflicting interpretations
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.72
- MetaLR 0.76
- MetaSVM 0.57
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Leber congenital amaurosis 2; Retinitis pigmentosa 87 with choro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- 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)