E52A (p.Glu52Ala) variant of MYD88 (Q99836)
E52A (p.Glu52Ala) in MYD88 (Q99836) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E52A (p.Glu52Ala) variant details
- p.Glu52Ala
- gnomAD 3-38138855-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available