N18S (p.Asn18Ser) variant of F13A1 (Coagulation factor XIII A chain)
N18S (p.Asn18Ser) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N18S (p.Asn18Ser) variant details
- p.Asn18Ser
- TOPMed rs1423535868
- gnomAD rs1423535868
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.27
- MetaLR 0.48
- MetaSVM -0.24
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available