N55D (p.Asn55Asp) variant of F5 (Coagulation factor V)
N55D (p.Asn55Asp) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N55D (p.Asn55Asp) variant details
- p.Asn55Asp
- ExAC rs756206405
- TOPMed rs756206405
- gnomAD rs756206405
- Uncertain significance
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.31
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Congenital factor V deficiency)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available