L22L (p.Leu22Leu) variant of PLCG2 (P16885)
L22L (p.Leu22Leu) in PLCG2 (P16885) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L22L (p.Leu22Leu) variant details
- p.Leu22Leu
- rs1423487027
- gnomAD 16-81786053-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.24
- MetaLR 0.45
- MetaSVM -0.23
- CADD 10.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.856
- Literature evidence available