R107Q (p.Arg107Gln) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R107Q (p.Arg107Gln) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R107Q (p.Arg107Gln) variant details
- p.Arg107Gln
- rs1387273472
- gnomAD 5-173233449-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.73
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available