F9V (p.Phe9Val) variant of RHO (Rhodopsin)
F9V (p.Phe9Val) 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 0.91 / 1. The record also includes structural context.
F9V (p.Phe9Val) variant details
- p.Phe9Val
- rs2108749130
- ClinGen CA354495193
- ClinVar RCV001897851
- Ensembl rs2108749130
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.71
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available