P2L (p.Pro2Leu) variant of NPR1 (P16066)
P2L (p.Pro2Leu) 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 and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- 1000Genomes rs13305995
- ExAC rs13305995
- TOPMed rs13305995
- gnomAD rs13305995
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.20
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available