G135S (p.Gly135Ser) variant of VWF (von Willebrand factor)
G135S (p.Gly135Ser) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G135S (p.Gly135Ser) variant details
- p.Gly135Ser
- gnomAD rs1945296189
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.53
- MetaLR 0.48
- MetaSVM 0.01
- CADD 25.80
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available