V58A (p.Val58Ala) variant of NPPA (Natriuretic peptides A)
V58A (p.Val58Ala) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V58A (p.Val58Ala) variant details
- p.Val58Ala
- gnomAD 1-11847390-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.03
- CADD 8.79
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available