K19N (p.Lys19Asn) variant of SMAD3 (SMAD family member 3)
K19N (p.Lys19Asn) in SMAD3 (SMAD family member 3) 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.
K19N (p.Lys19Asn) variant details
- p.Lys19Asn
- rs867126915
- ClinGen CA393202782
- ClinVar RCV003318231
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available