T3I (p.Thr3Ile) variant of PLCG2 (P16885)
T3I (p.Thr3Ile) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- gnomAD 16-81785997-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.0169
- Literature evidence available