P77S (p.Pro77Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P77S (p.Pro77Ser) 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.
P77S (p.Pro77Ser) variant details
- p.Pro77Ser
- rs771593440
- ClinGen CA3563825
- ClinVar RCV001984543
- ClinVar RCV004042122
- Uncertain significance
- Atrial septal defect 7; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.22
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Atrial septal defect 7; Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in ASD7)
- UniProt: Uncertain significance (in ASD7)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available