R107R (p.Arg107Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R107R (p.Arg107Arg) in NKX2-5 (Homeobox protein Nkx-2.5) is a synonymous 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.
R107R (p.Arg107Arg) variant details
- p.Arg107Arg
- gnomAD 5-173233450-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 3.44
- Population evidence available
- Structural context available
- Literature evidence available