D129N (p.Asp129Asn) variant of F13B (Coagulation factor XIII B chain)
D129N (p.Asp129Asn) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D129N (p.Asp129Asn) variant details
- p.Asp129Asn
- Ensembl rs1655873830
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.08
- CADD 14.10
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available