H5Y (p.His5Tyr) variant of ADAMTS13 (Q76LX8)
H5Y (p.His5Tyr) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H5Y (p.His5Tyr) variant details
- p.His5Tyr
- TOPMed rs1840014565
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.13
- MetaLR 0.32
- MetaSVM -0.69
- CADD 2.71
- PolyPhen-2 0.13
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available