K90Q (p.Lys90Gln) variant of NOS1AP (O75052)
K90Q (p.Lys90Gln) in NOS1AP (O75052) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K90Q (p.Lys90Gln) variant details
- p.Lys90Gln
- TOPMed rs1215631561
- gnomAD rs1215631561
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.16
- AlphaMissense 0.75
- MetaLR 0.06
- MetaSVM -1.10
- CADD 25.20
- PolyPhen-2 0.92
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available