G60V (p.Gly60Val) variant of RPGR (Q92834)
G60V (p.Gly60Val) 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 0.98 / 1. The record also includes published literature and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- rs62638634
- ClinGen CA226376
- ClinVar RCV000010580
- ClinVar RCV000085072
- Likely pathogenic
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- 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: Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and… (PMID 20631154)