D32N (p.Asp32Asn) variant of CD19 (B-lymphocyte antigen CD19)
D32N (p.Asp32Asn) 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 0.13 / 1. The record also includes population frequency data and structural context.
D32N (p.Asp32Asn) variant details
- p.Asp32Asn
- rs151258764
- ClinGen CA7988288
- ClinVar RCV002570937
- ESP rs151258764
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.01
- CADD 6.91
- PolyPhen-2 0.20
- SIFT 0.13
- 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