M16T (p.Met16Thr) variant of CD19 (B-lymphocyte antigen CD19)
M16T (p.Met16Thr) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Immunodeficiency, common variable, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
M16T (p.Met16Thr) variant details
- p.Met16Thr
- rs745681190
- ClinGen CA7988259
- ClinVar RCV001267750
- ExAC rs745681190
- Likely benign
- Immunodeficiency, common variable, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -1.05
- CADD 0.43
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Likely benign (Immunodeficiency, common variable, 3)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available