N15I (p.Asn15Ile) variant of RHO (Rhodopsin)
N15I (p.Asn15Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
N15I (p.Asn15Ile) variant details
- p.Asn15Ile
- rs104893786
- ClinGen CA354495329
- ClinVar RCV001093177
- Ensembl rs104893786
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.29
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available