G39C (p.Gly39Cys) variant of F13A1 (Coagulation factor XIII A chain)
G39C (p.Gly39Cys) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G39C (p.Gly39Cys) variant details
- p.Gly39Cys
- gnomAD rs1471936838
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.62
- MetaLR 0.59
- MetaSVM 0.32
- CADD 24.00
- PolyPhen-2 0.83
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available