G251D (p.Gly251Asp) variant of RPGR (Q92834)
G251D (p.Gly251Asp) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G251D (p.Gly251Asp) variant details
- p.Gly251Asp
- rs1555966699
- ClinGen CA412742559
- ClinVar RCV000536819
- ClinVar RCV002464247
- Conflicting interpretations
- not provided; Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Conflicting classifications of pathogenicity (not provided; Primary ciliary dyskinesia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)