A6E (p.Ala6Glu) variant of NOTCH1 (P46531)
A6E (p.Ala6Glu) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- rs758139292
- ClinGen CA375579890
- ClinVar RCV003748018
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 21.90
- PolyPhen-2 0.06
- SIFT 0.76
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available