R138I (p.Arg138Ile) variant of F13A1 (Coagulation factor XIII A chain)
R138I (p.Arg138Ile) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R138I (p.Arg138Ile) variant details
- p.Arg138Ile
- 1000Genomes rs202087752
- ExAC rs202087752
- TOPMed rs202087752
- gnomAD rs202087752
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.30
- MetaLR 0.17
- MetaSVM -0.87
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available