Q22* (p.Gln22Ter) variant of NPPA (Natriuretic peptides A)
Q22* (p.Gln22Ter) in NPPA (Natriuretic peptides A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- gnomAD 1-11847621-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 36.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Literature evidence available