A14T (p.Ala14Thr) variant of MS4A1 (B-lymphocyte antigen CD20)
A14T (p.Ala14Thr) 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 0.17 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs766227660
- ClinGen CA6024853
- cosmic curated COSV61942
- ClinVar RCV002036627
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.04
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available