R6H (p.Arg6His) variant of NPR1 (P16066)
R6H (p.Arg6His) in NPR1 (P16066) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- gnomAD 1-153679125-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.13
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available