T57S (p.Thr57Ser) variant of PLCG2 (P16885)
T57S (p.Thr57Ser) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T57S (p.Thr57Ser) variant details
- p.Thr57Ser
- gnomAD rs1429527089
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 22.40
- PolyPhen-2 0.43
- SIFT 0.27
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available