T75M (p.Thr75Met) variant of F13B (Coagulation factor XIII B chain)
T75M (p.Thr75Met) 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 0.14 / 1. The record also includes population frequency data and structural context.
T75M (p.Thr75Met) variant details
- p.Thr75Met
- rs915458369
- ClinGen CA344008444
- NCI-TCGA Cosmic COSV6637
- ClinVar RCV001099718
- Uncertain significance
- Factor XIII, b subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.15
- CADD 9.52
- PolyPhen-2 0.40
- SIFT 0.04
- 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 5.9e-05)
- Structural context available