L12P (p.Leu12Pro) variant of NPR1 (P16066)
L12P (p.Leu12Pro) in NPR1 (P16066) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 1-153679143-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.19
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available