P171L (p.Pro171Leu) variant of RHO (Rhodopsin)
P171L (p.Pro171Leu) 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; not provided; Retinitis pigmentosa 4. 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.
P171L (p.Pro171Leu) variant details
- p.Pro171Leu
- rs2084776162
- ClinGen CA354498729
- ClinVar RCV001069818
- ClinVar RCV001073649
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.72
- AlphaMissense 0.97
- MetaLR 0.38
- MetaSVM 0.09
- CADD 23.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa 4)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. (PMID 8088850)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)