A63S (p.Ala63Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A63S (p.Ala63Ser) 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.
A63S (p.Ala63Ser) variant details
- p.Ala63Ser
- NCI-TCGA Cosmic COSV6130
- cosmic curated COSV61300
- Variant assessed as somatic; moderate impact.
- in ASD7
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in ASD7)
- Structural context available