K296E (p.Lys296Glu) variant of RHO (Rhodopsin)
K296E (p.Lys296Glu) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
K296E (p.Lys296Glu) variant details
- p.Lys296Glu
- rs29001653
- ClinGen CA256677
- ClinVar RCV000013905
- ClinVar RCV002513028
- Pathogenic
- not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.99
- MetaLR 0.70
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (not provided; Retinitis pigmentosa 4)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Constitutively active mutants of rhodopsin. (PMID 1356370)
- Cited in: Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. (PMID 1765377)