A7S (p.Ala7Ser) variant of NOTCH2 (Q04721)
A7S (p.Ala7Ser) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alagille syndrome due to a NOTCH2 point mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- rs2101452527
- ClinGen CA341853324
- ClinVar RCV004547300
- Uncertain significance
- Alagille syndrome due to a NOTCH2 point mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.12
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Alagille syndrome due to a NOTCH2 point mutation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5e-05)
- Structural context available
- Cited in: Alagille Syndrome. (PMID 20301450)