A53T (p.Ala53Thr) variant of PLCG2 (P16885)
A53T (p.Ala53Thr) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial cold autoinflammatory syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- rs532678378
- ClinGen CA285164737
- ClinVar RCV001091768
- ClinVar RCV001340293
- Uncertain significance
- not provided; Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.29
- ClinVar: Uncertain significance (not provided; Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.177