R13C (p.Arg13Cys) variant of NPR1 (P16066)
R13C (p.Arg13Cys) in NPR1 (P16066) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- TOPMed rs1001658927
- gnomAD rs1001658927
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 0.22
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available