T99N (p.Thr99Asn) variant of RPGR (Q92834)
T99N (p.Thr99Asn) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinitis pigmentosa 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
T99N (p.Thr99Asn) variant details
- p.Thr99Asn
- rs62638637
- ClinGen CA412745374
- ClinVar RCV003890470
- ClinVar RCV005415487
- Pathogenic
- Retinitis pigmentosa 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.87
- MetaLR 0.87
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Retinitis pigmentosa 3)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis… (PMID 10482958)
- Cited in: Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and… (PMID 20631154)