Q82H (p.Gln82His) variant of NOTCH2 (Q04721)
Q82H (p.Gln82His) in NOTCH2 (Q04721) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q82H (p.Gln82His) variant details
- p.Gln82His
- NCI-TCGA Cosmic COSV5670
- cosmic curated COSV56708
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.13
- CADD 19.40
- PolyPhen-2 0.93
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available