W10C (p.Trp10Cys) variant of NOTCH2 (Q04721)
W10C (p.Trp10Cys) 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 0.35 / 1. The record also includes population frequency data and structural context.
W10C (p.Trp10Cys) variant details
- p.Trp10Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.20
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available