V30M (p.Val30Met) variant of F13B (Coagulation factor XIII B chain)
V30M (p.Val30Met) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- gnomAD rs1382286356
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.27
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available