V40I (p.Val40Ile) variant of F13A1 (Coagulation factor XIII A chain)
V40I (p.Val40Ile) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Thrombophilia due to thrombin defect; Factor XIII, A subunit, defi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V40I (p.Val40Ile) variant details
- p.Val40Ile
- rs3024472
- ClinGen CA3624772
- ClinVar RCV003931526
- ClinVar RCV004696575
- Uncertain significance
- not provided; Thrombophilia due to thrombin defect; Factor XIII, A subunit, defi
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.18
- MetaLR 0.21
- MetaSVM -0.94
- CADD 1.61
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not provided; Thrombophilia due to thrombin defect; Factor XIII,)
- EBI: Likely benign (in dbSNP:rs3024472)
- UniProt: Likely benign (in dbSNP:rs3024472)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Clinical guidelines for testing for heritable thrombophilia. (PMID 20128794)
- Cited in: Prothrombin Thrombophilia. (PMID 20301327)