D100H (p.Asp100His) variant of NOTCH2 (Q04721)
D100H (p.Asp100His) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
D100H (p.Asp100His) variant details
- p.Asp100His
- rs2101242610
- ClinGen CA341849083
- ClinVar RCV004488227
- Ensembl rs2101242610
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.18
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 1.00
- SIFT 0.37
- MutPred 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)