R7G (p.Arg7Gly) variant of ADAMTS13 (Q76LX8)
R7G (p.Arg7Gly) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- 1000Genomes rs34024143
- ESP rs34024143
- ExAC rs34024143
- TOPMed rs34024143
- Benign
- Missense
- MetaLR 0.27
- MetaSVM -0.88
- SIFT 0.15
- EBI: Benign
- UniProt: Benign
- Structural context available