P863S (p.Pro863Ser) variant of NOTCH2 (Q04721)
P863S (p.Pro863Ser) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alagille syndrome due to a NOTCH2 point mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P863S (p.Pro863Ser) variant details
- p.Pro863Ser
- rs1650362306
- ClinGen CA341858886
- ClinVar RCV001336624
- Ensembl rs1650362306
- Likely pathogenic
- Alagille syndrome due to a NOTCH2 point mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.12
- CADD 20.00
- PolyPhen-2 0.04
- SIFT 0.30
- ClinVar: Likely pathogenic (Alagille syndrome due to a NOTCH2 point mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Alagille Syndrome. (PMID 20301450)