F33L (p.Phe33Leu) variant of PLCG2 (P16885)
F33L (p.Phe33Leu) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial cold autoinflammatory syndrome 3; not provided. 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.
F33L (p.Phe33Leu) variant details
- p.Phe33Leu
- rs773040139
- ClinGen CA8193023
- cosmic curated COSV63868
- ClinVar RCV001300282
- Conflicting interpretations
- Familial cold autoinflammatory syndrome 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Conflicting classifications of pathogenicity (Familial cold autoinflammatory syndrome 3; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.293