R25L (p.Arg25Leu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R25L (p.Arg25Leu) 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 0.45 / 1. The record also includes population frequency data and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- ExAC rs762957966
- gnomAD rs762957966
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.28
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 0.34
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: uncertain significance (in ASD7, TOF, CHNG5, HLHS2 and CTHM)
- UniProt: Uncertain significance (in ASD7, TOF, CHNG5, HLHS2 and CTHM)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available