P60Q (p.Pro60Gln) variant of NPPA (Natriuretic peptides A)
P60Q (p.Pro60Gln) 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 0.10 / 1. The record also includes population frequency data and structural context.
P60Q (p.Pro60Gln) variant details
- p.Pro60Gln
- ExAC rs779265393
- TOPMed rs779265393
- gnomAD rs779265393
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.03
- CADD 10.60
- PolyPhen-2 0.01
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available