S49P (p.Ser49Pro) variant of MS4A1 (B-lymphocyte antigen CD20)
S49P (p.Ser49Pro) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- gnomAD 11-60462519-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.69
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available