R50L (p.Arg50Leu) variant of PLCG2 (P16885)
R50L (p.Arg50Leu) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- gnomAD 16-81786138-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 24.10
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0574
- Literature evidence available