A85V (p.Ala85Val) variant of WDR45 (Q9Y484)
A85V (p.Ala85Val) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodegeneration with brain iron accumulation 5; Oculocutaneous albinism type 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A85V (p.Ala85Val) variant details
- p.Ala85Val
- rs41310595
- ClinGen CA10408576
- ClinVar RCV000650355
- ClinVar RCV002507118
- Uncertain significance
- Neurodegeneration with brain iron accumulation 5; Oculocutaneous albinism type 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.28
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Neurodegeneration with brain iron accumulation 5; Oculocutaneous)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0056)
- Structural context available
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)
- Cited in: Beta-Propeller Protein-Associated Neurodegeneration. (PMID 28211668)