N33S (p.Asn33Ser) variant of WDR45 (Q9Y484)
N33S (p.Asn33Ser) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- TOPMed rs1443756909
- Uncertain significance
- not specified; Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.24
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; Neurodegeneration with brain iron accumulation 5)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available