Q70P (p.Gln70Pro) variant of F13B (Coagulation factor XIII B chain)
Q70P (p.Gln70Pro) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q70P (p.Gln70Pro) variant details
- p.Gln70Pro
- ESP rs149369147
- ExAC rs149369147
- TOPMed rs149369147
- gnomAD rs149369147
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available