R75G (p.Arg75Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R75G (p.Arg75Gly) 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 Cardiovascular phenotype; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R75G (p.Arg75Gly) variant details
- p.Arg75Gly
- rs1216673146
- ClinGen CA362163448
- ClinVar RCV001907978
- TOPMed rs1216673146
- Uncertain significance
- Cardiovascular phenotype; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.25
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available