E60V (p.Glu60Val) variant of NOTCH2 (Q04721)
E60V (p.Glu60Val) 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; Hajdu-Cheney syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E60V (p.Glu60Val) variant details
- p.Glu60Val
- Ensembl rs1652940155
- Uncertain significance
- Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.49
- CADD 23.80
- PolyPhen-2 0.89
- SIFT 0.06
- ClinVar: Uncertain significance (Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available