E38K (p.Glu38Lys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E38K (p.Glu38Lys) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- TOPMed rs1302984436
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.36
- CADD 22.80
- PolyPhen-2 0.08
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available