F14S (p.Phe14Ser) variant of WDR45 (Q9Y484)
F14S (p.Phe14Ser) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
F14S (p.Phe14Ser) variant details
- p.Phe14Ser
- rs1064794744
- ClinGen CA16621426
- ClinVar RCV000485248
- Ensembl rs1064794744
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 1.00
- MetaLR 0.44
- MetaSVM -0.38
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available