V14A (p.Val14Ala) variant of NKX2-5 (Homeobox protein Nkx-2.5)
V14A (p.Val14Ala) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- 1000Genomes rs2113906894
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.85
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available