N72K (p.Asn72Lys) variant of F13A1 (Coagulation factor XIII A chain)
N72K (p.Asn72Lys) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N72K (p.Asn72Lys) variant details
- p.Asn72Lys
- gnomAD rs1285216737
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.34
- MetaLR 0.05
- MetaSVM -1.02
- CADD 15.30
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available