V58L (p.Val58Leu) variant of NPPA (Natriuretic peptides A)
V58L (p.Val58Leu) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
V58L (p.Val58Leu) variant details
- p.Val58Leu
- ExAC rs768114654
- TOPMed rs768114654
- gnomAD rs768114654
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0464
- REVEL 0.03
- CADD 0.31
- PolyPhen-2 0.01
- SIFT 0.64
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available