R40R (p.Arg40Arg) variant of PLCG2 (P16885)
R40R (p.Arg40Arg) in PLCG2 (P16885) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40R (p.Arg40Arg) variant details
- p.Arg40Arg
- rs1910959009
- gnomAD 16-81786109-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 7.60
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.713
- Literature evidence available