R409H (p.Arg409His) variant of RPGR (Q92834)
R409H (p.Arg409His) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R409H (p.Arg409His) variant details
- p.Arg409His
- rs746041459
- ClinGen CA10385517
- cosmic curated COSV58837
- ClinVar RCV003053362
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.5e-05)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)