E53del (p.Glu53del) variant of MYD88 (Q99836)
E53del (p.Glu53del) in MYD88 (Q99836) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E53del (p.Glu53del) variant details
- rs878852993
- gnomAD 3-38138852-CGGA-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)