S149F (p.Ser149Phe) variant of RLBP1 (Retinaldehyde-binding protein 1)
S149F (p.Ser149Phe) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
S149F (p.Ser149Phe) variant details
- p.Ser149Phe
- rs2051568988
- ClinGen CA393729865
- ClinVar RCV001257812
- Ensembl rs2051568988
- Pathogenic
- Autosomal recessive retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.14
- MetaLR 0.30
- MetaSVM -0.39
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.24
- ClinVar: Pathogenic (Autosomal recessive retinitis pigmentosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available