N48R (p.Asn48Arg) variant of ADA (Adenosine deaminase)
N48R (p.Asn48Arg) in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
N48R (p.Asn48Arg) variant details
- p.Asn48Arg
- rs2516181122
- ClinGen CA2580098231
- ClinVar RCV002309645
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)