Q56E (p.Gln56Glu) variant of MS4A1 (B-lymphocyte antigen CD20)
Q56E (p.Gln56Glu) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q56E (p.Gln56Glu) variant details
- p.Gln56Glu
- gnomAD 11-60463008-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.38
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available