G21V (p.Gly21Val) variant of NOTCH1 (P46531)
G21V (p.Gly21Val) 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 0.63 / 1. The record also includes population frequency data and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- NCI-TCGA Cosmic COSV5308
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 29.10
- PolyPhen-2 0.84
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available