G96E (p.Gly96Glu) variant of ACVR1 (Activin receptor type-1)
G96E (p.Gly96Glu) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes population frequency data and structural context.
G96E (p.Gly96Glu) variant details
- p.Gly96Glu
- rs373678733
- ClinGen CA59281056
- ClinVar RCV003672417
- ESP rs373678733
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available