W37S (p.Trp37Ser) variant of RPE65 (Retinoid isomerohydrolase)
W37S (p.Trp37Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital isolated adrenocorticotropic hormone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
W37S (p.Trp37Ser) variant details
- p.Trp37Ser
- rs1557603965
- ClinGen CA340749285
- ClinVar RCV000754596
- Ensembl rs1557603965
- Uncertain significance
- Congenital isolated adrenocorticotropic hormone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- MutPred 0.73
- ClinVar: Uncertain significance (Congenital isolated adrenocorticotropic hormone deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available