K40T (p.Lys40Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
K40T (p.Lys40Thr) in COL6A2 (Collagen alpha-2(VI) chain) 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.
K40T (p.Lys40Thr) variant details
- p.Lys40Thr
- rs2516989049
- ClinGen CA410519919
- ClinVar RCV003143304
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available