R412Q (p.Arg412Gln) variant of RPGR (Q92834)
R412Q (p.Arg412Gln) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R412Q (p.Arg412Gln) variant details
- p.Arg412Gln
- rs1044939968
- ClinGen CA327924860
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 25.60
- 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 Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)