R323C (p.Arg323Cys) variant of RPGR (Q92834)
R323C (p.Arg323Cys) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R323C (p.Arg323Cys) variant details
- p.Arg323Cys
- rs757712647
- ClinGen CA327926561
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58833
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)