S48Y (p.Ser48Tyr) variant of ADAMTS13 (Q76LX8)
S48Y (p.Ser48Tyr) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S48Y (p.Ser48Tyr) variant details
- p.Ser48Tyr
- TOPMed rs1554784034
- gnomAD rs1554784034
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.27
- MetaLR 0.60
- MetaSVM -0.26
- CADD 19.50
- PolyPhen-2 0.80
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available