G21R (p.Gly21Arg) variant of NPPA (Natriuretic peptides A)
G21R (p.Gly21Arg) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- 1000Genomes rs138410047
- ESP rs138410047
- ExAC rs138410047
- TOPMed rs138410047
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)