E33D (p.Glu33Asp) variant of RHO (Rhodopsin)
E33D (p.Glu33Asp) 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 0.24 / 1. The record also includes population frequency data and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- rs1232548343
- ClinGen CA354495705
- ClinVar RCV003046374
- gnomAD rs1232548343
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.16
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available