R84L (p.Arg84Leu) variant of F12 (Coagulation factor XII)
R84L (p.Arg84Leu) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R84L (p.Arg84Leu) variant details
- p.Arg84Leu
- ESP rs141155093
- ExAC rs141155093
- TOPMed rs141155093
- gnomAD rs141155093
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.14
- CADD 9.21
- PolyPhen-2 0.07
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available