E5G (p.Glu5Gly) variant of RHO (Rhodopsin)
E5G (p.Glu5Gly) 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 0.81 / 1. The record also includes population frequency data and structural context.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- rs144270441
- ClinGen CA2607036
- ClinVar RCV001316648
- ESP rs144270441
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.93
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available