L75R (p.Leu75Arg) variant of F13A1 (Coagulation factor XIII A chain)
L75R (p.Leu75Arg) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L75R (p.Leu75Arg) variant details
- p.Leu75Arg
- gnomAD rs1244093247
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.91
- MetaLR 0.38
- MetaSVM -0.16
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available