P11T (p.Pro11Thr) variant of NOS3 (Nitric oxide synthase 3)
P11T (p.Pro11Thr) in NOS3 (Nitric oxide synthase 3) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- cosmic curated COSV10512
- ESP rs141170595
- ExAC rs141170595
- TOPMed rs141170595
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.13
- CADD 11.30
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Benign (not provided)
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.0012)
- Structural context available