K27E (p.Lys27Glu) variant of ACVR1 (Activin receptor type-1)
K27E (p.Lys27Glu) 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 structural context.
K27E (p.Lys27Glu) variant details
- p.Lys27Glu
- rs2467968205
- ClinGen CA349194053
- ClinVar RCV003699966
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available