E33K (p.Glu33Lys) variant of RHO (Rhodopsin)
E33K (p.Glu33Lys) in RHO (Rhodopsin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- NCI-TCGA Cosmic COSV9907
- NCI-TCGA Cosmic COSV9996
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.61
- CADD 23.10
- PolyPhen-2 0.25
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available