P2S (p.Pro2Ser) variant of NOTCH1 (P46531)
P2S (p.Pro2Ser) 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 0.57 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- TOPMed rs975429231
- gnomAD rs975429231
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.16
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available