P242L (p.Pro242Leu) variant of RPGR (Q92834)
P242L (p.Pro242Leu) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P242L (p.Pro242Leu) variant details
- p.Pro242Leu
- rs773408909
- ClinGen CA10385602
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58833
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 18.60
- PolyPhen-2 0.07
- SIFT 0.12
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)