P171Q (p.Pro171Gln) variant of RHO (Rhodopsin)
P171Q (p.Pro171Gln) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Retinitis pigmentosa 4; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
P171Q (p.Pro171Gln) variant details
- p.Pro171Gln
- rs2084776162
- ClinGen CA354498726
- ClinVar RCV001074404
- ClinVar RCV001090663
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Retinitis pigmentosa 4; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- AlphaMissense 0.97
- MetaLR 0.38
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Retinitis pigmentosa 4; Retinitis pigmentosa)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa. (PMID 7987326)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)