A101S (p.Ala101Ser) variant of NIPBL (Nipped-B-like protein)
A101S (p.Ala101Ser) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A101S (p.Ala101Ser) variant details
- p.Ala101Ser
- gnomAD 5-36958174-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.76
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available