P7H (p.Pro7His) variant of NPR1 (P16066)
P7H (p.Pro7His) 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 0.34 / 1. The record also includes population frequency data and structural context.
P7H (p.Pro7His) variant details
- p.Pro7His
- rs891868440
- ClinGen CA30731265
- ClinVar RCV004491096
- TOPMed rs891868440
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.27
- CADD 16.80
- PolyPhen-2 0.21
- SIFT 0.26
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available