R12G (p.Arg12Gly) variant of F13A1 (Coagulation factor XIII A chain)
R12G (p.Arg12Gly) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- ExAC rs763927187
- TOPMed rs763927187
- gnomAD rs763927187
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.57
- MetaLR 0.51
- MetaSVM -0.01
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available