P13L (p.Pro13Leu) variant of NOS3 (Nitric oxide synthase 3)
P13L (p.Pro13Leu) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- ESP rs201968188
- ExAC rs201968188
- TOPMed rs201968188
- gnomAD rs201968188
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.11
- CADD 21.50
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00056)
- Structural context available