Q23K (p.Gln23Lys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Q23K (p.Gln23Lys) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q23K (p.Gln23Lys) variant details
- p.Gln23Lys
- TOPMed rs1761444032
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.33
- CADD 21.40
- PolyPhen-2 0.03
- SIFT 0.14
- Population evidence available
- Structural context available