A39E (p.Ala39Glu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A39E (p.Ala39Glu) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A39E (p.Ala39Glu) variant details
- p.Ala39Glu
- TOPMed rs1234717083
- gnomAD rs1234717083
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.24
- CADD 23.80
- PolyPhen-2 0.50
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available