T4K (p.Thr4Lys) variant of PLCG2 (P16885)
T4K (p.Thr4Lys) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T4K (p.Thr4Lys) variant details
- p.Thr4Lys
- gnomAD 16-81786000-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 3.09
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0189
- Literature evidence available