R369C (p.Arg369Cys) variant of RPGR (Q92834)
R369C (p.Arg369Cys) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RPGR-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R369C (p.Arg369Cys) variant details
- p.Arg369Cys
- rs768571911
- ClinGen CA10385539
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58833
- Likely benign
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 17.40
- PolyPhen-2 0.86
- SIFT 0.18
- ClinVar: Likely benign (RPGR-related retinopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00017)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)