A21T (p.Ala21Thr) variant of PLCG2 (P16885)
A21T (p.Ala21Thr) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cold autoinflammatory syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- cosmic curated COSV63868
- TOPMed rs1248111391
- gnomAD rs1248111391
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.368