N15K (p.Asn15Lys) variant of RHO (Rhodopsin)
N15K (p.Asn15Lys) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
N15K (p.Asn15Lys) variant details
- p.Asn15Lys
- rs1578278088
- ClinGen CA354495336
- ClinVar RCV001379130
- Ensembl rs1578278088
- Likely pathogenic
- not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.87
- MetaLR 0.94
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)