L20del (p.Leu20del) variant of NPR1 (P16066)
L20del (p.Leu20del) in NPR1 (P16066) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L20del (p.Leu20del) variant details
- rs1669684696
- gnomAD 1-153679159-CCTG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.163
- CADD 11.60
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available