M28I (p.Met28Ile) variant of NPPA (Natriuretic peptides A)
M28I (p.Met28Ile) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
M28I (p.Met28Ile) variant details
- p.Met28Ile
- gnomAD 1-11847601-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- CADD 8.14
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available