T29S (p.Thr29Ser) variant of PLCG2 (P16885)
T29S (p.Thr29Ser) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T29S (p.Thr29Ser) variant details
- p.Thr29Ser
- ExAC rs778662619
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.331