T41K (p.Thr41Lys) variant of MS4A1 (B-lymphocyte antigen CD20)
T41K (p.Thr41Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
T41K (p.Thr41Lys) variant details
- p.Thr41Lys
- 1000Genomes rs147754874
- ESP rs147754874
- ExAC rs147754874
- TOPMed rs147754874
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.13
- MetaLR 0.09
- MetaSVM -0.96
- CADD 22.90
- PolyPhen-2 0.78
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available