F45L (p.Phe45Leu) variant of RHO (Rhodopsin)
F45L (p.Phe45Leu) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F45L (p.Phe45Leu) variant details
- p.Phe45Leu
- rs104893770
- ClinGen CA256666
- ClinVar RCV000013893
- ClinVar RCV001851838
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.20
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. (PMID 1833777)
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 1862076)