L92H (p.Leu92His) variant of NOS1AP (O75052)
L92H (p.Leu92His) 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 0.39 / 1. The record also includes population frequency data and structural context.
L92H (p.Leu92His) variant details
- p.Leu92His
- rs1486725581
- ClinGen CA343395128
- ClinVar RCV004324632
- TOPMed rs1486725581
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.23
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.56
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available