A83T (p.Ala83Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A83T (p.Ala83Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Atrial septal defect 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- rs750249799
- ClinGen CA3563818
- ClinVar RCV000520166
- ClinVar RCV004023619
- Conflicting interpretations
- Cardiovascular phenotype; Atrial septal defect 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.25
- CADD 12.40
- PolyPhen-2 0.03
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Atrial septal defect 7; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available