L18F (p.Leu18Phe) variant of F12 (Coagulation factor XII)
L18F (p.Leu18Phe) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- rs138423738
- ClinGen CA3581649
- ClinVar RCV003695699
- 1000Genomes rs138423738
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.15
- CADD 14.60
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available