P55Q (p.Pro55Gln) variant of NOTCH1 (P46531)
P55Q (p.Pro55Gln) in NOTCH1 (P46531) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P55Q (p.Pro55Gln) variant details
- p.Pro55Gln
- gnomAD rs1286892980
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- MetaLR 0.04
- MetaSVM -1.02
- CADD 3.84
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.34
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available