G436D (p.Gly436Asp) variant of RPGR (Q92834)
G436D (p.Gly436Asp) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPGR-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
G436D (p.Gly436Asp) variant details
- p.Gly436Asp
- rs62635004
- ClinGen CA226356
- ClinVar RCV000085053
- ClinVar RCV006451929
- Likely pathogenic
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.04
- PolyPhen-2 0.01
- SIFT 0.63
- EVE 0.14
- ClinVar: Likely pathogenic (RPGR-related retinopathy)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. (PMID 10937588)
- Cited in: Five novel RPGR mutations in families with X-linked retinitis pigmentosa. (PMID 11180598)