E53K (p.Glu53Lys) variant of MYD88 (Q99836)
E53K (p.Glu53Lys) in MYD88 (Q99836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pyogenic bacterial infections due to MyD88 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- rs765198848
- ClinGen CA2316043
- ClinVar RCV001990133
- ExAC rs765198848
- Uncertain significance
- Pyogenic bacterial infections due to MyD88 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.17
- MetaLR 0.38
- MetaSVM -0.45
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.57
- ClinVar: Uncertain significance (Pyogenic bacterial infections due to MyD88 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available