H2Y (p.His2Tyr) variant of ADAMTS13 (Q76LX8)
H2Y (p.His2Tyr) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
H2Y (p.His2Tyr) variant details
- p.His2Tyr
- ExAC rs782013900
- TOPMed rs782013900
- gnomAD rs782013900
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.10
- MetaLR 0.25
- MetaSVM -1.01
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available