H21L (p.His21Leu) variant of SMAD4 (SMAD family member 4)
H21L (p.His21Leu) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
H21L (p.His21Leu) variant details
- p.His21Leu
- gnomAD rs1280706054
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available