L22V (p.Leu22Val) variant of PLCG2 (P16885)
L22V (p.Leu22Val) in PLCG2 (P16885) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- TOPMed rs1423487027
- gnomAD rs1423487027
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.24
- MetaLR 0.45
- MetaSVM -0.23
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.856