D16A (p.Asp16Ala) variant of NKX2-5 (Homeobox protein Nkx-2.5)
D16A (p.Asp16Ala) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
D16A (p.Asp16Ala) variant details
- p.Asp16Ala
- rs17052019
- UniProt VAR 049581
- Ensembl rs17052019
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.01
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.41
- Structural context available