P88L (p.Pro88Leu) variant of NIPBL (Nipped-B-like protein)
P88L (p.Pro88Leu) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- gnomAD 5-36958136-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.79
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available