P55L (p.Pro55Leu) variant of NOS3 (Nitric oxide synthase 3)
P55L (p.Pro55Leu) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- rs374957936
- cosmic curated COSV52489
- NCI-TCGA Cosmic COSV5249
- ESP rs374957936
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.08
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available