E55D (p.Glu55Asp) variant of WDR45 (Q9Y484)
E55D (p.Glu55Asp) in WDR45 (Q9Y484) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E55D (p.Glu55Asp) variant details
- p.Glu55Asp
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10054
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.38
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available