I74F (p.Ile74Phe) variant of NOS1AP (O75052)
I74F (p.Ile74Phe) in NOS1AP (O75052) is a missense change. Clinical records from ClinVar, EBI, 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 0.36 / 1. The record also includes population frequency data and structural context.
I74F (p.Ile74Phe) variant details
- p.Ile74Phe
- rs1363633940
- ClinGen CA343392331
- ClinVar RCV004488161
- TOPMed rs1363633940
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.28
- CADD 25.00
- PolyPhen-2 0.88
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available