G21S (p.Gly21Ser) variant of NPPA (Natriuretic peptides A)
G21S (p.Gly21Ser) 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 0.28 / 1. The record also includes population frequency data.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs138410047
- ClinGen CA597123
- ClinVar RCV001915835
- 1000Genomes rs138410047
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.17
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)