G74A (p.Gly74Ala) variant of NKX2-5 (Homeobox protein Nkx-2.5)
G74A (p.Gly74Ala) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G74A (p.Gly74Ala) variant details
- p.Gly74Ala
- rs1451685747
- gnomAD 5-173233464-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 12.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available