V45L (p.Val45Leu) variant of PLCG2 (P16885)
V45L (p.Val45Leu) 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 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V45L (p.Val45Leu) variant details
- p.Val45Leu
- rs368137889
- ClinGen CA8193038
- ClinVar RCV003643937
- ESP rs368137889
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.08
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.732