A11G (p.Ala11Gly) variant of PLCG2 (P16885)
A11G (p.Ala11Gly) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- gnomAD 16-81786021-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.764
- Literature evidence available