I17K (p.Ile17Lys) variant of RAD50 (DNA repair protein RAD50)
I17K (p.Ile17Lys) 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.
I17K (p.Ile17Lys) variant details
- p.Ile17Lys
- Ensembl rs942335090
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available