T43S (p.Thr43Ser) variant of NOTCH1 (P46531)
T43S (p.Thr43Ser) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T43S (p.Thr43Ser) variant details
- p.Thr43Ser
- ExAC rs753523233
- TOPMed rs753523233
- gnomAD rs753523233
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 21.20
- PolyPhen-2 0.08
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0011)
- Structural context available