V105M (p.Val105Met) variant of WDR45 (Q9Y484)
V105M (p.Val105Met) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
V105M (p.Val105Met) variant details
- p.Val105Met
- rs2147816550
- ClinGen CA412946749
- ClinVar RCV003152141
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.92
- MetaLR 0.35
- MetaSVM -0.17
- PolyPhen-2 0.70
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available