T10I (p.Thr10Ile) variant of WDR45 (Q9Y484)
T10I (p.Thr10Ile) 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 0.27 / 1. The record also includes structural context.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- rs2147817863
- ClinGen CA412949529
- ClinVar RCV002279145
- Ensembl rs2147817863
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- AlphaMissense 0.18
- MetaLR 0.05
- MetaSVM -1.06
- PolyPhen-2 0.26
- SIFT 0.10
- EVE 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available