K80N (p.Lys80Asn) variant of VWF (von Willebrand factor)
K80N (p.Lys80Asn) 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.
K80N (p.Lys80Asn) variant details
- p.Lys80Asn
- Ensembl rs2136522815
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.02
- MetaLR 0.14
- MetaSVM -1.00
- CADD 23.00
- PolyPhen-2 0.58
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available