K40R (p.Lys40Arg) variant of CD19 (B-lymphocyte antigen CD19)
K40R (p.Lys40Arg) 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 0.07 / 1. The record also includes population frequency data and structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- rs906793959
- ClinGen CA279269293
- ClinVar RCV002610631
- TOPMed rs906793959
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0728
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.07
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available