P60L (p.Pro60Leu) variant of NPPA (Natriuretic peptides A)
P60L (p.Pro60Leu) 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 0.15 / 1. The record also includes population frequency data and structural context.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- ExAC rs779265393
- TOPMed rs779265393
- gnomAD rs779265393
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.09
- CADD 12.80
- PolyPhen-2 0.22
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available