T66N (p.Thr66Asn) variant of NOTCH1 (P46531)
T66N (p.Thr66Asn) in NOTCH1 (P46531) 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 0.18 / 1. The record also includes population frequency data and structural context.
T66N (p.Thr66Asn) variant details
- p.Thr66Asn
- NCI-TCGA Cosmic COSV5308
- NCI-TCGA Cosmic COSV9948
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 5.00
- PolyPhen-2 0.00
- SIFT 0.65
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available