R369H (p.Arg369His) variant of RPGR (Q92834)
R369H (p.Arg369His) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R369H (p.Arg369His) variant details
- p.Arg369His
- rs1409862085
- ClinGen CA412739996
- cosmic curated COSV10881
- ClinVar RCV002771162
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0677
- CADD 0.28
- PolyPhen-2 0.07
- SIFT 0.56
- ClinVar: Likely benign (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)