N78S (p.Asn78Ser) variant of VWF (von Willebrand factor)
N78S (p.Asn78Ser) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N78S (p.Asn78Ser) variant details
- p.Asn78Ser
- ExAC rs768075585
- gnomAD rs768075585
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.08
- MetaLR 0.22
- MetaSVM -0.88
- CADD 14.10
- PolyPhen-2 0.14
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available