Q22E (p.Gln22Glu) variant of NPPA (Natriuretic peptides A)
Q22E (p.Gln22Glu) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
Q22E (p.Gln22Glu) variant details
- p.Gln22Glu
- gnomAD 1-11847621-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.15
- CADD 15.50
- PolyPhen-2 0.06
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 0.00041)
- Literature evidence available