N44S (p.Asn44Ser) variant of VWF (von Willebrand factor)
N44S (p.Asn44Ser) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- gnomAD rs1012488531
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.09
- MetaLR 0.24
- MetaSVM -0.81
- CADD 21.00
- PolyPhen-2 0.91
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available