P52R (p.Pro52Arg) variant of ADAMTS13 (Q76LX8)
P52R (p.Pro52Arg) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- gnomAD 9-133423150-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.05
- MetaLR 0.29
- MetaSVM -0.88
- CADD 6.71
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available