G21C (p.Gly21Cys) variant of NPPA (Natriuretic peptides A)
G21C (p.Gly21Cys) 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. The record also includes population frequency data.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- rs138410047
- ClinGen CA597121
- ClinVar RCV003632553
- 1000Genomes rs138410047
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.25
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)