P93S (p.Pro93Ser) variant of NIPBL (Nipped-B-like protein)
P93S (p.Pro93Ser) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P93S (p.Pro93Ser) variant details
- p.Pro93Ser
- ExAC rs750047678
- gnomAD rs750047678
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.75
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available