A8P (p.Ala8Pro) variant of ADAMTS13 (Q76LX8)
A8P (p.Ala8Pro) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- gnomAD 9-133422465-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.24
- MetaLR 0.42
- MetaSVM -0.53
- CADD 18.80
- PolyPhen-2 0.28
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available