T47N (p.Thr47Asn) variant of CD19 (B-lymphocyte antigen CD19)
T47N (p.Thr47Asn) in CD19 (B-lymphocyte antigen CD19) 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 0.10 / 1. The record also includes population frequency data and structural context.
T47N (p.Thr47Asn) variant details
- p.Thr47Asn
- rs375965055
- ClinGen CA7988294
- ClinVar RCV002647102
- ESP rs375965055
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.96
- CADD 5.28
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available