R33K (p.Arg33Lys) variant of MS4A1 (B-lymphocyte antigen CD20)
R33K (p.Arg33Lys) in MS4A1 (B-lymphocyte antigen CD20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R33K (p.Arg33Lys) variant details
- p.Arg33Lys
- rs747239876
- ClinGen CA6024863
- cosmic curated COSV61941
- ClinVar RCV003691420
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.02
- CADD 1.34
- PolyPhen-2 0.01
- SIFT 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available