E52D (p.Glu52Asp) variant of MYD88 (Q99836)
E52D (p.Glu52Asp) in MYD88 (Q99836) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in IMD68. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- TOPMed rs1417201017
- gnomAD rs1417201017
- Likely benign
- in IMD68
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 24.50
- PolyPhen-2 0.53
- SIFT 0.14
- EBI: Likely benign (in IMD68)
- UniProt: Likely benign (in IMD68)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available