P106R (p.Pro106Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P106R (p.Pro106Arg) 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 0.43 / 1. The record also includes population frequency data and structural context.
P106R (p.Pro106Arg) variant details
- p.Pro106Arg
- rs1188239387
- ClinGen CA362163241
- ClinVar RCV002322716
- ClinVar RCV006616667
- Conflicting interpretations
- Cardiovascular phenotype; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.19
- AlphaMissense 0.10
- MetaLR 0.64
- MetaSVM -0.37
- CADD 19.40
- PolyPhen-2 0.74
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Atrial septal defect 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available