D140E (p.Asp140Glu) variant of F5 (Coagulation factor V)
D140E (p.Asp140Glu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
D140E (p.Asp140Glu) variant details
- p.Asp140Glu
- rs757003471
- ClinGen CA343138924
- ClinVar RCV004385856
- ExAC rs757003471
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.84
- MetaLR 0.95
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.79
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)