p.Val40 Leu43del variant of NPR1 (P16066)
p.Val40 Leu43del in NPR1 (P16066) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val40 Leu43del variant details
- gnomAD 1-153679223-GTGGT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available