I92T (p.Ile92Thr) variant of NIPBL (Nipped-B-like protein)
I92T (p.Ile92Thr) in NIPBL (Nipped-B-like protein) is a missense change. 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.
I92T (p.Ile92Thr) variant details
- p.Ile92Thr
- ExAC rs780783113
- gnomAD rs780783113
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.67
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available