D190H (p.Asp190His) variant of RHO (Rhodopsin)
D190H (p.Asp190His) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
D190H (p.Asp190His) variant details
- p.Asp190His
- rs104893779
- ClinGen CA354499304
- ClinVar RCV001724812
- ClinVar RCV002539737
- Conflicting interpretations
- Retinitis pigmentosa; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.92
- MetaLR 0.24
- MetaSVM -0.51
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.36
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa; Retinal dystrophy; not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)