R40Q (p.Arg40Gln) variant of PLCG2 (P16885)
R40Q (p.Arg40Gln) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- gnomAD rs1347311494
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- CADD 32.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.713