F86S (p.Phe86Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
F86S (p.Phe86Ser) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Atrial septal defect 7. 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.
F86S (p.Phe86Ser) variant details
- p.Phe86Ser
- rs373807012
- ClinGen CA3563815
- ClinVar RCV002026496
- ESP rs373807012
- Likely benign
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.49
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.29
- ClinVar: Likely benign (Atrial septal defect 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available