N44T (p.Asn44Thr) variant of VWF (von Willebrand factor)
N44T (p.Asn44Thr) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N44T (p.Asn44Thr) variant details
- p.Asn44Thr
- gnomAD rs1012488531
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.11
- MetaLR 0.18
- MetaSVM -0.87
- CADD 22.50
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available