R6L (p.Arg6Leu) variant of NPR1 (P16066)
R6L (p.Arg6Leu) in NPR1 (P16066) is a missense change. Clinical records from ClinVar, EBI, 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 0.24 / 1. The record also includes population frequency data and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- rs543746764
- ClinGen CA30731256
- ClinVar RCV004289640
- 1000Genomes rs543746764
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.16
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available