S45F (p.Ser45Phe) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S45F (p.Ser45Phe) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in ASD7. The record also includes structural context.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- in ASD7
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in ASD7)
- Structural context available