G74R (p.Gly74Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
G74R (p.Gly74Arg) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G74R (p.Gly74Arg) variant details
- p.Gly74Arg
- rs1478644699
- gnomAD 5-173233447-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 7.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available