P88S (p.Pro88Ser) variant of NIPBL (Nipped-B-like protein)
P88S (p.Pro88Ser) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P88S (p.Pro88Ser) variant details
- p.Pro88Ser
- ExAC rs753307330
- TOPMed rs753307330
- gnomAD rs753307330
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.94
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available