A3V (p.Ala3Val) variant of NOTCH2 (Q04721)
A3V (p.Ala3Val) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alagille syndrome due to a NOTCH2 point mutation; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs200646249
- ClinGen CA1041064
- ClinVar RCV001733725
- ClinVar RCV004711713
- Likely benign
- Alagille syndrome due to a NOTCH2 point mutation; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.32
- CADD 22.50
- PolyPhen-2 0.74
- SIFT 0.57
- ClinVar: Likely benign (Alagille syndrome due to a NOTCH2 point mutation; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Alagille Syndrome. (PMID 20301450)