P7L (p.Pro7Leu) variant of NPR1 (P16066)
P7L (p.Pro7Leu) in NPR1 (P16066) 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 0.34 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- TOPMed rs891868440
- gnomAD rs891868440
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.26
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available