I82V (p.Ile82Val) variant of F5 (Coagulation factor V)
I82V (p.Ile82Val) 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 Thrombophilia due to activated protein C resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I82V (p.Ile82Val) variant details
- p.Ile82Val
- rs377674263
- ClinGen CA1234693
- ClinVar RCV003313886
- ESP rs377674263
- Uncertain significance
- Thrombophilia due to activated protein C resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.38
- CADD 17.90
- PolyPhen-2 0.27
- SIFT 0.31
- ClinVar: Uncertain significance (Thrombophilia due to activated protein C resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)
- Cited in: Factor V Leiden Thrombophilia. (PMID 20301542)