M1I (p.Met1Ile) variant of NOTCH2 (Q04721)
M1I (p.Met1Ile) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs56159748
- ClinGen CA1041068
- ClinVar RCV001656212
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- MetaLR 0.14
- MetaSVM -0.94
- PolyPhen-2 0.27
- SIFT 0.36
- MutPred 0.96
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Structural context available