D99Y (p.Asp99Tyr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
D99Y (p.Asp99Tyr) 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 Atrial septal defect 7; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D99Y (p.Asp99Tyr) variant details
- p.Asp99Tyr
- rs1761431105
- ClinGen CA362163300
- ClinVar RCV001954580
- ClinVar RCV006352638
- Uncertain significance
- Atrial septal defect 7; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.21
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Atrial septal defect 7; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available