C37Y (p.Cys37Tyr) variant of ADAMTS13 (Q76LX8)
C37Y (p.Cys37Tyr) 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, published literature, and structural context.
C37Y (p.Cys37Tyr) variant details
- p.Cys37Tyr
- gnomAD 9-133423105-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.05
- MetaLR 0.27
- MetaSVM -0.87
- CADD 10.00
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available