G78D (p.Gly78Asp) variant of ADAMTS13 (Q76LX8)
G78D (p.Gly78Asp) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G78D (p.Gly78Asp) variant details
- p.Gly78Asp
- ExAC rs782188171
- gnomAD rs782188171
- cosmic curated COSV63023
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.06
- MetaLR 0.26
- MetaSVM -0.91
- CADD 2.35
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available