T35I (p.Thr35Ile) variant of NIPBL (Nipped-B-like protein)
T35I (p.Thr35Ile) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T35I (p.Thr35Ile) variant details
- p.Thr35Ile
- gnomAD 5-36955511-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available