R40W (p.Arg40Trp) variant of PLCG2 (P16885)
R40W (p.Arg40Trp) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40W (p.Arg40Trp) variant details
- p.Arg40Trp
- gnomAD 16-81786107-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.713
- Literature evidence available