I387T (p.Ile387Thr) variant of F5 (Coagulation factor V)
I387T (p.Ile387Thr) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia due to activated protein C resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I387T (p.Ile387Thr) variant details
- p.Ile387Thr
- rs118203911
- ClinGen CA251561
- ClinVar RCV000000689
- UniProt VAR 032698
- Pathogenic
- Thrombophilia due to activated protein C resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.95
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic (Thrombophilia due to activated protein C resistance)
- EBI: Pathogenic (in THPH2)
- UniProt: Pathogenic (in THPH2)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C. (PMID 14617013)
- Cited in: Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis. (PMID 14695241)