L95V (p.Leu95Val) variant of WDR45 (Q9Y484)
L95V (p.Leu95Val) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Neurodegeneration with brain iron accumulation 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
L95V (p.Leu95Val) variant details
- p.Leu95Val
- rs2065040026
- ClinGen CA412948405
- ClinVar RCV003735182
- Ensembl rs2065040026
- Conflicting interpretations
- Inborn genetic diseases; Neurodegeneration with brain iron accumulation 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.24
- MetaLR 0.08
- MetaSVM -1.10
- PolyPhen-2 0.01
- SIFT 0.53
- EVE 0.15
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Neurodegeneration with brain iron accum)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)