P34L (p.Pro34Leu) variant of NOS3 (Nitric oxide synthase 3)
P34L (p.Pro34Leu) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs556096751
- 1000Genomes rs556096751
- ExAC rs556096751
- gnomAD rs556096751
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.07
- CADD 19.70
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available