T74S (p.Thr74Ser) variant of NIPBL (Nipped-B-like protein)
T74S (p.Thr74Ser) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T74S (p.Thr74Ser) variant details
- p.Thr74Ser
- gnomAD 5-36955627-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.62
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available