P79R (p.Pro79Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P79R (p.Pro79Arg) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P79R (p.Pro79Arg) variant details
- p.Pro79Arg
- rs777921797
- ClinGen CA3563821
- ClinVar RCV001371618
- ExAC rs777921797
- Likely benign
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.28
- CADD 18.30
- PolyPhen-2 0.35
- SIFT 0.59
- ClinVar: Likely benign (Atrial septal defect 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available