P180L (p.Pro180Leu) variant of RHO (Rhodopsin)
P180L (p.Pro180Leu) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinitis pigmentosa 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
P180L (p.Pro180Leu) variant details
- p.Pro180Leu
- rs2084785483
- ClinGen CA354499117
- ClinVar RCV001265192
- ClinVar RCV001880088
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.89
- MetaLR 0.29
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 4; not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)