T66S (p.Thr66Ser) variant of NOTCH1 (P46531)
T66S (p.Thr66Ser) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T66S (p.Thr66Ser) variant details
- p.Thr66Ser
- Ensembl rs2133379675
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 2.46
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available