A40V (p.Ala40Val) variant of NOTCH1 (P46531)
A40V (p.Ala40Val) 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 0.42 / 1. The record also includes population frequency data and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 13.20
- PolyPhen-2 0.02
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available