R95L (p.Arg95Leu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R95L (p.Arg95Leu) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R95L (p.Arg95Leu) variant details
- p.Arg95Leu
- rs763729448
- ClinGen CA3563814
- ClinVar RCV001302062
- ClinVar RCV002437025
- Conflicting interpretations
- Cardiovascular phenotype; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Atrial septal defect 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available