P55H (p.Pro55His) variant of ADAMTS13 (Q76LX8)
P55H (p.Pro55His) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P55H (p.Pro55His) variant details
- p.Pro55His
- gnomAD 9-133423159-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.18
- MetaLR 0.41
- MetaSVM -0.58
- CADD 15.20
- PolyPhen-2 0.35
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available