R95G (p.Arg95Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R95G (p.Arg95Gly) 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 0.40 / 1. The record also includes population frequency data and structural context.
R95G (p.Arg95Gly) variant details
- p.Arg95Gly
- rs1244289450
- ClinGen CA362163327
- ClinVar RCV003062839
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available