E42K (p.Glu42Lys) variant of ADAMTS13 (Q76LX8)
E42K (p.Glu42Lys) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- gnomAD 9-133423119-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.20
- MetaLR 0.50
- MetaSVM -0.10
- CADD 22.60
- PolyPhen-2 0.44
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available