H10Q (p.His10Gln) variant of FGB (Fibrinogen beta chain)
H10Q (p.His10Gln) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
H10Q (p.His10Gln) variant details
- p.His10Gln
- TOPMed rs1730012638
- gnomAD rs1730012638
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.09
- CADD 6.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available