H98Q (p.His98Gln) variant of RPGR (Q92834)
H98Q (p.His98Gln) in RPGR (Q92834) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H98Q (p.His98Gln) variant details
- p.His98Gln
- rs62638636
- ClinGen CA226404
- ClinVar RCV000085094
- UniProt VAR 008504
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Population evidence available
- Structural context available
- Cited in: Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. (PMID 10932196)
- Cited in: Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and… (PMID 20631154)