G18D (p.Gly18Asp) variant of RHO (Rhodopsin)
G18D (p.Gly18Asp) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- rs200946638
- ClinGen CA2607047
- ClinVar RCV000767356
- ClinVar RCV001003166
- Conflicting interpretations
- not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.92
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.60
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)