R107S (p.Arg107Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R107S (p.Arg107Ser) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R107S (p.Arg107Ser) variant details
- p.Arg107Ser
- ExAC rs771362938
- gnomAD rs771362938
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.16
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available