R28Q (p.Arg28Gln) variant of NPR1 (P16066)
R28Q (p.Arg28Gln) 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 0.22 / 1. The record also includes population frequency data and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- TOPMed rs1292195838
- gnomAD rs1292195838
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.18
- CADD 8.77
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available