A8L (p.Ala8Leu) variant of NPR1 (P16066)
A8L (p.Ala8Leu) in NPR1 (P16066) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A8L (p.Ala8Leu) variant details
- p.Ala8Leu
- gnomAD 1-153679125-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available