G74G (p.Gly74Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
G74G (p.Gly74Gly) in NKX2-5 (Homeobox protein Nkx-2.5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G74G (p.Gly74Gly) variant details
- p.Gly74Gly
- rs571495972
- gnomAD 5-173233463-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.35
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available