P38R (p.Pro38Arg) variant of PLCG2 (P16885)
P38R (p.Pro38Arg) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- TOPMed rs1178533195
- gnomAD rs1178533195
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.803