D107H (p.Asp107His) variant of F5 (Coagulation factor V)
D107H (p.Asp107His) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Thrombophilia due to thrombin defect; Congenital factor V deficiency; not specif. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D107H (p.Asp107His) variant details
- p.Asp107His
- rs6019
- ClinGen CA1234655
- cosmic curated COSV10745
- ClinVar RCV000242383
- Benign/Likely benign
- Thrombophilia due to thrombin defect; Congenital factor V deficiency; not specif
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.33
- CADD 20.40
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Benign/Likely benign (Thrombophilia due to thrombin defect; Congenital factor V defici)
- EBI: Benign (in dbSNP:rs6019)
- UniProt: Benign (in dbSNP:rs6019)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)