C37F (p.Cys37Phe) variant of ADAMTS13 (Q76LX8)
C37F (p.Cys37Phe) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
C37F (p.Cys37Phe) variant details
- p.Cys37Phe
- gnomAD 9-133423105-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.06
- MetaLR 0.20
- MetaSVM -0.94
- CADD 4.25
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available