S23P (p.Ser23Pro) variant of RPE65 (Retinoid isomerohydrolase)
S23P (p.Ser23Pro) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- TOPMed rs1349861264
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.32
- MetaLR 0.39
- MetaSVM -0.57
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- UniProt: Uncertain significance
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 0.5)
- Structural context available