R50P (p.Arg50Pro) variant of PLCG2 (P16885)
R50P (p.Arg50Pro) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R50P (p.Arg50Pro) variant details
- p.Arg50Pro
- gnomAD 16-81786138-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 27.20
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0574
- Literature evidence available