R411Q (p.Arg411Gln) variant of RPGR (Q92834)
R411Q (p.Arg411Gln) in RPGR (Q92834) is a missense change. Clinical records from ClinVar 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 0.54 / 1. The record also includes population frequency data and structural context.
R411Q (p.Arg411Gln) variant details
- p.Arg411Gln
- rs139594653
- NCI-TCGA Cosmic COSV1001
- ESP rs139594653
- ExAC rs139594653
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available