G31R (p.Gly31Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
G31R (p.Gly31Arg) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- rs1360215151
- ClinGen CA362163705
- cosmic curated COSV10733
- ClinVar RCV001208962
- Uncertain significance
- Atrial septal defect 7; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.15
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Atrial septal defect 7; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available