R409C (p.Arg409Cys) variant of RPGR (Q92834)
R409C (p.Arg409Cys) 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 0.61 / 1. The record also includes population frequency data and structural context.
R409C (p.Arg409Cys) variant details
- p.Arg409Cys
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58837
- TOPMed rs2067448260
- gnomAD rs2067448260
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available