A53V (p.Ala53Val) variant of PLCG2 (P16885)
A53V (p.Ala53Val) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar 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 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- cosmic curated COSV63878
- TOPMed rs1253716514
- gnomAD rs1253716514
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 1.00
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.177