I77T (p.Ile77Thr) variant of NIPBL (Nipped-B-like protein)
I77T (p.Ile77Thr) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I77T (p.Ile77Thr) variant details
- p.Ile77Thr
- gnomAD 5-36955637-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.88
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available