S103T (p.Ser103Thr) variant of NIPBL (Nipped-B-like protein)
S103T (p.Ser103Thr) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of NIPBL-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S103T (p.Ser103Thr) variant details
- p.Ser103Thr
- ExAC rs748123160
- gnomAD rs748123160
- Uncertain significance
- NIPBL-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (NIPBL-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available