T4R (p.Thr4Arg) variant of PLCG2 (P16885)
T4R (p.Thr4Arg) in PLCG2 (P16885) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T4R (p.Thr4Arg) variant details
- p.Thr4Arg
- 1000Genomes rs199972098
- ESP rs199972098
- ExAC rs199972098
- TOPMed rs199972098
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 4.33
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0189