I122T (p.Ile122Thr) variant of F13A1 (Coagulation factor XIII A chain)
I122T (p.Ile122Thr) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I122T (p.Ile122Thr) variant details
- p.Ile122Thr
- ExAC rs777638115
- TOPMed rs777638115
- gnomAD rs777638115
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.44
- MetaLR 0.43
- MetaSVM -0.40
- CADD 20.40
- PolyPhen-2 0.13
- SIFT 0.21
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available