A21V (p.Ala21Val) variant of PLCG2 (P16885)
A21V (p.Ala21Val) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation. The record also includes experimental measurements and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs2507343856
- ClinGen CA396895392
- ClinVar RCV004547363
- Uncertain significance
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Missense
- ClinVar: Uncertain significance (Autoinflammation-PLCG2-associated antibody deficiency-immune dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.368