P367S (p.Pro367Ser) variant of RPGR (Q92834)
P367S (p.Pro367Ser) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P367S (p.Pro367Ser) variant details
- p.Pro367Ser
- rs769641256
- ClinGen CA10385543
- cosmic curated COSV58832
- ClinVar RCV002922088
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 23.40
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)