T35A (p.Thr35Ala) variant of NIPBL (Nipped-B-like protein)
T35A (p.Thr35Ala) 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 Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- rs763015442
- ClinGen CA3235742
- ClinVar RCV003879669
- ExAC rs763015442
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.65
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)