R107G (p.Arg107Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R107G (p.Arg107Gly) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R107G (p.Arg107Gly) variant details
- p.Arg107Gly
- rs1308631223
- gnomAD 5-173233450-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 3.59
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available