E53D (p.Glu53Asp) variant of MYD88 (Q99836)
E53D (p.Glu53Asp) in MYD88 (Q99836) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E53D (p.Glu53Asp) variant details
- p.Glu53Asp
- gnomAD 3-38138859-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 22.80
- PolyPhen-2 0.34
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available