N128S (p.Asn128Ser) variant of F12 (Coagulation factor XII)
N128S (p.Asn128Ser) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N128S (p.Asn128Ser) variant details
- p.Asn128Ser
- gnomAD rs1763264742
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.23
- CADD 19.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available