T3P (p.Thr3Pro) variant of PLCG2 (P16885)
T3P (p.Thr3Pro) in PLCG2 (P16885) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T3P (p.Thr3Pro) variant details
- p.Thr3Pro
- rs1445255316
- gnomAD 16-81785993-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 17.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.0169
- Literature evidence available