Q24K (p.Gln24Lys) variant of MS4A1 (B-lymphocyte antigen CD20)
Q24K (p.Gln24Lys) 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 0.11 / 1. The record also includes population frequency data and structural context.
Q24K (p.Gln24Lys) variant details
- p.Gln24Lys
- 1000Genomes rs201354938
- ExAC rs201354938
- TOPMed rs201354938
- gnomAD rs201354938
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.06
- CADD 6.37
- PolyPhen-2 0.06
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available