A101G (p.Ala101Gly) variant of NIPBL (Nipped-B-like protein)
A101G (p.Ala101Gly) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A101G (p.Ala101Gly) variant details
- p.Ala101Gly
- TOPMed rs986024813
- gnomAD rs986024813
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.30
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available