A40E (p.Ala40Glu) variant of RAD50 (DNA repair protein RAD50)
A40E (p.Ala40Glu) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A40E (p.Ala40Glu) variant details
- p.Ala40Glu
- Ensembl rs1554096657
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available