P52A (p.Pro52Ala) variant of ADAMTS13 (Q76LX8)
P52A (p.Pro52Ala) 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.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- gnomAD 9-133423149-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.10
- MetaLR 0.29
- MetaSVM -0.88
- CADD 0.50
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available