M4L (p.Met4Leu) variant of FGB (Fibrinogen beta chain)
M4L (p.Met4Leu) in FGB (Fibrinogen beta chain) 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 0.14 / 1. The record also includes population frequency data and structural context.
M4L (p.Met4Leu) variant details
- p.Met4Leu
- rs767891657
- ClinGen CA3114424
- ClinVar RCV003854984
- ExAC rs767891657
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.09
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available