P67S (p.Pro67Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P67S (p.Pro67Ser) 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.
P67S (p.Pro67Ser) variant details
- p.Pro67Ser
- rs2480079901
- ClinGen CA362163494
- ClinVar RCV002417069
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available