H29L (p.His29Leu) variant of F13B (Coagulation factor XIII B chain)
H29L (p.His29Leu) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Factor XIII, b subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
H29L (p.His29Leu) variant details
- p.His29Leu
- rs1655925611
- ClinGen CA344008961
- ClinVar RCV003388291
- TOPMed rs1655925611
- Uncertain significance
- Factor XIII, b subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.0734
- REVEL 0.07
- CADD 0.66
- PolyPhen-2 0.01
- SIFT 0.60
- ClinVar: Uncertain significance (Factor XIII, b subunit, deficiency of)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available