A30D (p.Ala30Asp) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A30D (p.Ala30Asp) 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 0.47 / 1. The record also includes population frequency data and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- rs1425683417
- ClinGen CA362163708
- ClinVar RCV000820710
- TOPMed rs1425683417
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.37
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.40
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available