S24L (p.Ser24Leu) variant of RPE65 (Retinoid isomerohydrolase)
S24L (p.Ser24Leu) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- rs893611409
- TOPMed rs893611409
- gnomAD rs893611409
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.30
- MetaLR 0.64
- MetaSVM 0.22
- CADD 24.40
- PolyPhen-2 0.11
- SIFT 0.07
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available