K296N (p.Lys296Asn) variant of RHO (Rhodopsin)
K296N (p.Lys296Asn) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinitis pigmentosa 4; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
K296N (p.Lys296Asn) variant details
- p.Lys296Asn
- rs2084793009
- ClinGen CA354470800
- ClinVar RCV001228505
- ClinVar RCV001265163
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 4; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 4; Retinitis pigmentosa)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)