A63E (p.Ala63Glu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A63E (p.Ala63Glu) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in ASD7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A63E (p.Ala63Glu) variant details
- p.Ala63Glu
- 1000Genomes rs530270916
- ExAC rs530270916
- TOPMed rs530270916
- gnomAD rs530270916
- Likely benign
- in ASD7
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.13
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Likely benign (in ASD7)
- UniProt: Likely benign (in ASD7)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available