E32K (p.Glu32Lys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E32K (p.Glu32Lys) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- 1000Genomes rs552617433
- ExAC rs552617433
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.34
- CADD 22.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available