R50R (p.Arg50Arg) variant of PLCG2 (P16885)
R50R (p.Arg50Arg) in PLCG2 (P16885) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R50R (p.Arg50Arg) variant details
- p.Arg50Arg
- rs770951220
- gnomAD 16-81786137-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 7.61
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0574
- Literature evidence available