E10D (p.Glu10Asp) variant of NOS3 (Nitric oxide synthase 3)
E10D (p.Glu10Asp) in NOS3 (Nitric oxide synthase 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- cosmic curated COSV52496
- 1000Genomes rs2117095251
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.05
- CADD 5.74
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available