A3S (p.Ala3Ser) variant of NOTCH2 (Q04721)
A3S (p.Ala3Ser) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Alagille syndrome due to a NOTCH2 point mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- rs782113557
- ClinGen CA249100
- ClinVar RCV000202905
- ClinVar RCV001640305
- Benign/Likely benign
- not specified; not provided; Alagille syndrome due to a NOTCH2 point mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.84
- SIFT 0.50
- ClinVar: Benign/Likely benign (not specified; not provided; Alagille syndrome due to a NOTCH2 p)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Alagille Syndrome. (PMID 20301450)