A39V (p.Ala39Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A39V (p.Ala39Val) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10023
- TOPMed rs1234717083
- gnomAD rs1234717083
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available