R40Q (p.Arg40Gln) variant of NOS3 (Nitric oxide synthase 3)
R40Q (p.Arg40Gln) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- 1000Genomes rs199688227
- ESP rs199688227
- ExAC rs199688227
- TOPMed rs199688227
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0417
- REVEL 0.02
- CADD 0.33
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available