S45A (p.Ser45Ala) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S45A (p.Ser45Ala) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in ASD7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S45A (p.Ser45Ala) variant details
- p.Ser45Ala
- ExAC rs779548360
- TOPMed rs779548360
- gnomAD rs779548360
- Uncertain significance
- in ASD7
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.45
- AlphaMissense 0.21
- MetaLR 0.81
- MetaSVM 0.62
- CADD 25.60
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance (in ASD7)
- UniProt: Uncertain significance (in ASD7)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available