R411W (p.Arg411Trp) variant of RPGR (Q92834)
R411W (p.Arg411Trp) in RPGR (Q92834) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R411W (p.Arg411Trp) variant details
- p.Arg411Trp
- rs1267740350
- gnomAD rs1267740350
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available