S5T (p.Ser5Thr) variant of NPPA (Natriuretic peptides A)
S5T (p.Ser5Thr) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- rs1645079555
- ClinGen CA338452087
- ClinVar RCV002642543
- Ensembl rs1645079555
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.06
- SIFT 0.09
- MutPred 0.15
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance