V43F (p.Val43Phe) variant of PLCG2 (P16885)
V43F (p.Val43Phe) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cold autoinflammatory syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V43F (p.Val43Phe) variant details
- p.Val43Phe
- rs370352962
- ClinGen CA396895521
- ClinVar RCV000804933
- 1000Genomes rs370352962
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.71
- MetaLR 0.06
- MetaSVM -0.94
- PolyPhen-2 0.97
- SIFT 0.80
- MutPred 0.66
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.228