G106V (p.Gly106Val) variant of RHO (Rhodopsin)
G106V (p.Gly106Val) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
G106V (p.Gly106Val) variant details
- p.Gly106Val
- rs1578278417
- ClinGen CA354496869
- ClinVar RCV000987329
- ClinVar RCV006464902
- Likely pathogenic
- not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 0.99
- MetaLR 0.54
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (not provided; Retinitis pigmentosa 4)
- EBI: Likely pathogenic (in RP4)
- UniProt: Likely pathogenic (in RP4)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)