R11L (p.Arg11Leu) variant of NPR1 (P16066)
R11L (p.Arg11Leu) in NPR1 (P16066) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- TOPMed rs904927899
- gnomAD rs904927899
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.20
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available