L12S (p.Leu12Ser) variant of F13B (Coagulation factor XIII B chain)
L12S (p.Leu12Ser) in F13B (Coagulation factor XIII B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L12S (p.Leu12Ser) variant details
- p.Leu12Ser
- gnomAD rs1169927860
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.13
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available