P27S (p.Pro27Ser) variant of NOTCH1 (P46531)
P27S (p.Pro27Ser) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- ExAC rs769784635
- TOPMed rs769784635
- gnomAD rs769784635
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 19.80
- PolyPhen-2 0.04
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available