D16N (p.Asp16Asn) variant of NKX2-5 (Homeobox protein Nkx-2.5)
D16N (p.Asp16Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D16N (p.Asp16Asn) variant details
- p.Asp16Asn
- rs750904275
- ClinGen CA3563857
- ClinVar RCV001967393
- ExAC rs750904275
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.62
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance (in dbSNP:rs17052019)
- UniProt: Uncertain significance (in dbSNP:rs17052019)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available