A16D (p.Ala16Asp) variant of ADAMTS13 (Q76LX8)
A16D (p.Ala16Asp) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD 9-133422490-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.21
- MetaLR 0.31
- MetaSVM -0.75
- CADD 9.76
- PolyPhen-2 0.15
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available