P33T (p.Pro33Thr) variant of NIPBL (Nipped-B-like protein)
P33T (p.Pro33Thr) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P33T (p.Pro33Thr) variant details
- p.Pro33Thr
- gnomAD 5-36955504-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available