A42V (p.Ala42Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A42V (p.Ala42Val) 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 0.40 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- rs1761439619
- ClinGen CA362163639
- ClinVar RCV001928843
- TOPMed rs1761439619
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.24
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available