P171R (p.Pro171Arg) variant of RHO (Rhodopsin)
P171R (p.Pro171Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P171R (p.Pro171Arg) variant details
- p.Pro171Arg
- rs2084776162
- ClinGen CA354498731
- ClinVar RCV001208283
- ClinVar RCV003388936
- Pathogenic/Likely pathogenic
- not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.72
- AlphaMissense 0.97
- MetaLR 0.38
- MetaSVM 0.09
- CADD 23.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinitis pigmentosa)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)