V94A (p.Val94Ala) variant of F5 (Coagulation factor V)
V94A (p.Val94Ala) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Factor V deficiency; Budd-Chiari syndrome; Thrombophilia due to thrombin defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V94A (p.Val94Ala) variant details
- p.Val94Ala
- rs751093518
- ClinGen CA1234665
- cosmic curated COSV10745
- ClinVar RCV001098012
- Uncertain significance
- Factor V deficiency; Budd-Chiari syndrome; Thrombophilia due to thrombin defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.77
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Factor V deficiency; Budd-Chiari syndrome; Thrombophilia due to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)
- Cited in: Factor V Leiden Thrombophilia. (PMID 20301542)