P48L (p.Pro48Leu) variant of NOS3 (Nitric oxide synthase 3)
P48L (p.Pro48Leu) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- gnomAD rs1453213012
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.03
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available