P55T (p.Pro55Thr) variant of NOTCH1 (P46531)
P55T (p.Pro55Thr) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P55T (p.Pro55Thr) variant details
- p.Pro55Thr
- Ensembl rs2133379809
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.13
- Population evidence available
- Structural context available