R34C (p.Arg34Cys) variant of PLCG2 (P16885)
R34C (p.Arg34Cys) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- cosmic curated COSV63867
- ExAC rs770382676
- TOPMed rs770382676
- gnomAD rs770382676
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 28.70
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.164