P27L (p.Pro27Leu) variant of NIPBL (Nipped-B-like protein)
P27L (p.Pro27Leu) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- gnomAD 5-36955487-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.83
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available