R36L (p.Arg36Leu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R36L (p.Arg36Leu) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data and structural context.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- Ensembl rs948440843
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.31
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Atrial septal defect 7)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available