L17F (p.Leu17Phe) variant of NPR1 (P16066)
L17F (p.Leu17Phe) in NPR1 (P16066) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- gnomAD 1-153679157-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.27
- CADD 15.70
- PolyPhen-2 0.11
- SIFT 0.21
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available