A6T (p.Ala6Thr) variant of NOTCH1 (P46531)
A6T (p.Ala6Thr) 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 0.36 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- rs1564217184
- ClinGen CA375579892
- ClinVar RCV000697592
- TOPMed rs1564217184
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available