H14N (p.His14Asn) variant of NOS1AP (O75052)
H14N (p.His14Asn) in NOS1AP (O75052) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
H14N (p.His14Asn) variant details
- p.His14Asn
- rs1553253970
- ClinGen CA343464774
- ClinVar RCV000586086
- Ensembl rs1553253970
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.29
- MetaLR 0.16
- MetaSVM -0.83
- PolyPhen-2 0.98
- SIFT 0.07
- MutPred 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available