V415F (p.Val415Phe) variant of F13A1 (Coagulation factor XIII A chain)
V415F (p.Val415Phe) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V415F (p.Val415Phe) variant details
- p.Val415Phe
- rs121913070
- ClinGen CA126630
- ClinVar RCV000017994
- TOPMed rs121913070
- Pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.63
- MetaLR 0.34
- MetaSVM -0.32
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Identification and characterization of two missense mutations causing factor XIIIA deficiency. (PMID 10027709)