H27Q (p.His27Gln) variant of NPPB (Natriuretic peptides B)
H27Q (p.His27Gln) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H27Q (p.His27Gln) variant details
- p.His27Gln
- 1000Genomes rs564298750
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.06
- CADD 22.20
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available