V48L (p.Val48Leu) variant of WDR45 (Q9Y484)
V48L (p.Val48Leu) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V48L (p.Val48Leu) variant details
- p.Val48Leu
- ExAC rs782518681
- gnomAD rs782518681
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.14
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5e-05)
- Structural context available