A54L (p.Ala54Leu) variant of MS4A1 (B-lymphocyte antigen CD20)
A54L (p.Ala54Leu) in MS4A1 (B-lymphocyte antigen CD20) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A54L (p.Ala54Leu) variant details
- p.Ala54Leu
- gnomAD 11-60462532-G-GCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 27.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available