I143K (p.Ile143Lys) variant of RAD21 (O60216)
I143K (p.Ile143Lys) in RAD21 (O60216) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic.
I143K (p.Ile143Lys) variant details
- p.Ile143Lys
- gnomAD rs1382274750
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic