R59C (p.Arg59Cys) variant of WDR45 (Q9Y484)
R59C (p.Arg59Cys) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- rs887699606
- NCI-TCGA Cosmic COSV5987
- cosmic curated COSV59876
- TOPMed rs887699606
- Uncertain significance
- Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.39
- CADD 24.40
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Uncertain significance (Neurodegeneration with brain iron accumulation 5)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available