M1K (p.Met1Lys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
M1K (p.Met1Lys) 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 variant effect predictions and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1761447434
- ClinGen CA362163892
- ClinVar RCV004518926
- Uncertain significance
- Cardiovascular phenotype
- Missense
- MetaLR 0.92
- MetaSVM 0.50
- PolyPhen-2 0.46
- SIFT 0.00
- MutPred 0.64
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available