F24L (p.Phe24Leu) variant of RHO (Rhodopsin)
F24L (p.Phe24Leu) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
F24L (p.Phe24Leu) variant details
- p.Phe24Leu
- rs768877243
- ClinGen CA354495523
- ClinVar RCV001073462
- ExAC rs768877243
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.83
- CADD 21.60
- PolyPhen-2 0.36
- SIFT 0.00
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available