F9L (p.Phe9Leu) variant of RHO (Rhodopsin)
F9L (p.Phe9Leu) 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 0.75 / 1. The record also includes population frequency data and structural context.
F9L (p.Phe9Leu) variant details
- p.Phe9Leu
- rs1361105199
- ClinGen CA354495202
- ClinVar RCV001322759
- TOPMed rs1361105199
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.85
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available