A8G (p.Ala8Gly) variant of NPR1 (P16066)
A8G (p.Ala8Gly) 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 0.22 / 1. The record also includes population frequency data and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- TOPMed rs1161031173
- gnomAD rs1161031173
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.21
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available