P6L (p.Pro6Leu) variant of ADAMTS13 (Q76LX8)
P6L (p.Pro6Leu) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- gnomAD 9-133422460-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.10
- MetaLR 0.37
- MetaSVM -0.77
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available