A16T (p.Ala16Thr) variant of NOTCH1 (P46531)
A16T (p.Ala16Thr) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs2133408578
- ClinGen CA375579805
- ClinVar RCV001806589
- Ensembl rs2133408578
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 18.90
- PolyPhen-2 0.06
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available