F92V (p.Phe92Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
F92V (p.Phe92Val) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
F92V (p.Phe92Val) variant details
- p.Phe92Val
- rs2480079424
- ClinGen CA362163347
- ClinVar RCV003078470
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.50
- CADD 23.30
- PolyPhen-2 0.54
- SIFT 0.23
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available