D140N (p.Asp140Asn) variant of F5 (Coagulation factor V)
D140N (p.Asp140Asn) in F5 (Coagulation factor V) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
D140N (p.Asp140Asn) variant details
- p.Asp140Asn
- rs778572956
- cosmic curated COSV10651
- ExAC rs778572956
- TOPMed rs778572956
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.71
- CADD 25.00
- PolyPhen-2 0.70
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available