N46H (p.Asn46His) variant of NOTCH2 (Q04721)
N46H (p.Asn46His) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N46H (p.Asn46His) variant details
- p.Asn46His
- gnomAD rs1553210709
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.27
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available