D101Y (p.Asp101Tyr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
D101Y (p.Asp101Tyr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D101Y (p.Asp101Tyr) variant details
- p.Asp101Tyr
- TOPMed rs1365219269
- gnomAD rs1365219269
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.40
- CADD 26.80
- PolyPhen-2 0.67
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available