M5T (p.Met5Thr) variant of NIPBL (Nipped-B-like protein)
M5T (p.Met5Thr) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes structural context.
M5T (p.Met5Thr) variant details
- p.Met5Thr
- ExAC rs764272515
- TOPMed rs764272515
- gnomAD rs764272515
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- ESM-1b 0.00
- AlphaMissense 0.99
- Structural context available