A16T (p.Ala16Thr) variant of NPPA (Natriuretic peptides A)
A16T (p.Ala16Thr) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- ExAC rs754947478
- gnomAD rs754947478
- Missense
- Variant Prioritization Score for Impact Estimate 0.0962
- REVEL 0.05
- CADD 4.78
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the 1KG:CLM population (allele frequency 0.0053)