D19V (p.Asp19Val) variant of ADA (Adenosine deaminase)
D19V (p.Asp19Val) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
D19V (p.Asp19Val) variant details
- p.Asp19Val
- rs2516197070
- ClinGen CA409122500
- ClinVar RCV003312536
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available