V48I (p.Val48Ile) variant of F13A1 (Coagulation factor XIII A chain)
V48I (p.Val48Ile) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V48I (p.Val48Ile) variant details
- p.Val48Ile
- ExAC rs754697772
- TOPMed rs754697772
- gnomAD rs754697772
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.31
- MetaLR 0.38
- MetaSVM -0.23
- CADD 19.80
- PolyPhen-2 0.61
- SIFT 0.50
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available