R34L (p.Arg34Leu) variant of PLCG2 (P16885)
R34L (p.Arg34Leu) in PLCG2 (P16885) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- 1000Genomes rs537204469
- ExAC rs537204469
- gnomAD rs537204469
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 24.90
- PolyPhen-2 0.09
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.164