H45N (p.His45Asn) variant of WDR45 (Q9Y484)
H45N (p.His45Asn) 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 0.30 / 1. The record also includes population frequency data and structural context.
H45N (p.His45Asn) variant details
- p.His45Asn
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10054
- TOPMed rs2065046194
- gnomAD rs2065046194
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.05
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available