F13S (p.Phe13Ser) variant of RHO (Rhodopsin)
F13S (p.Phe13Ser) 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 record also includes structural context.
F13S (p.Phe13Ser) variant details
- p.Phe13Ser
- rs2533019429
- ClinGen CA354495292
- ClinVar RCV003890823
- Uncertain significance
- Retinal dystrophy
- Missense
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available