P79Q (p.Pro79Gln) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P79Q (p.Pro79Gln) 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 0.40 / 1. The record also includes population frequency data and structural context.
P79Q (p.Pro79Gln) variant details
- p.Pro79Gln
- rs777921797
- ClinGen CA362163424
- cosmic curated COSV10023
- ClinVar RCV003620481
- Uncertain significance
- Cardiovascular phenotype; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.25
- CADD 17.70
- PolyPhen-2 0.28
- SIFT 0.63
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available