S52C (p.Ser52Cys) variant of VWF (von Willebrand factor)
S52C (p.Ser52Cys) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S52C (p.Ser52Cys) variant details
- p.Ser52Cys
- ExAC rs747701551
- gnomAD rs747701551
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.45
- MetaLR 0.42
- MetaSVM 0.06
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available