Q61H (p.Gln61His) variant of NPPA (Natriuretic peptides A)
Q61H (p.Gln61His) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q61H (p.Gln61His) variant details
- p.Gln61His
- gnomAD 1-11847380-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.12
- CADD 19.80
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available