K69I (p.Lys69Ile) variant of ERCC2 (P18074)
K69I (p.Lys69Ile) in ERCC2 (P18074) 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.
K69I (p.Lys69Ile) variant details
- p.Lys69Ile
- rs2514044992
- ClinGen CA406379248
- ClinVar RCV002297436
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available