E9A (p.Glu9Ala) variant of IRAK1 (P51617)
E9A (p.Glu9Ala) in IRAK1 (P51617) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
E9A (p.Glu9Ala) variant details
- p.Glu9Ala
- rs2065769801
- ClinGen CA415156729
- ClinVar RCV004096619
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available