Q18R (p.Gln18Arg) variant of NPPA (Natriuretic peptides A)
Q18R (p.Gln18Arg) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- ExAC rs750190514
- gnomAD rs750190514
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.12
- CADD 13.30
- PolyPhen-2 0.19
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)