T26A (p.Thr26Ala) variant of PLCG2 (P16885)
T26A (p.Thr26Ala) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T26A (p.Thr26Ala) variant details
- p.Thr26Ala
- gnomAD rs1158633876
- Uncertain significance
- Familial cold autoinflammatory syndrome 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3; not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.121