P392L (p.Pro392Leu) variant of RPGR (Q92834)
P392L (p.Pro392Leu) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P392L (p.Pro392Leu) variant details
- p.Pro392Leu
- rs372004762
- ClinGen CA10385526
- cosmic curated COSV58832
- ClinVar RCV002904911
- Conflicting interpretations
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 14.10
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)