V317F (p.Val317Phe) variant of F13A1 (Coagulation factor XIII A chain)
V317F (p.Val317Phe) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
V317F (p.Val317Phe) variant details
- p.Val317Phe
- rs121913073
- ClinGen CA126642
- ClinVar RCV000017999
- gnomAD rs121913073
- Pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.97
- MetaLR 0.92
- MetaSVM 1.05
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII… (PMID 11167856)