S34P (p.Ser34Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S34P (p.Ser34Pro) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
S34P (p.Ser34Pro) variant details
- p.Ser34Pro
- rs2480080381
- ClinGen CA362163687
- ClinVar RCV002442246
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available