A21S (p.Ala21Ser) variant of PLCG2 (P16885)
A21S (p.Ala21Ser) 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 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- rs1248111391
- ClinGen CA396895389
- cosmic curated COSV10084
- ClinVar RCV002031022
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.89
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.368