S78A (p.Ser78Ala) variant of WDR45 (Q9Y484)
S78A (p.Ser78Ala) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
S78A (p.Ser78Ala) variant details
- p.Ser78Ala
- rs1557084450
- ClinGen CA412949014
- ClinVar RCV002148947
- gnomAD rs1557084450
- Likely benign
- Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.22
- MetaLR 0.32
- MetaSVM -0.45
- PolyPhen-2 0.02
- SIFT 0.09
- EVE 0.10
- ClinVar: Likely benign (Neurodegeneration with brain iron accumulation 5)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)