P52L (p.Pro52Leu) variant of ADAMTS13 (Q76LX8)
P52L (p.Pro52Leu) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD 9-133423150-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.05
- MetaLR 0.31
- MetaSVM -0.81
- CADD 7.98
- PolyPhen-2 0.09
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available