I77V (p.Ile77Val) variant of NIPBL (Nipped-B-like protein)
I77V (p.Ile77Val) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I77V (p.Ile77Val) variant details
- p.Ile77Val
- Ensembl rs376938430
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.83
- MetaSVM 0.74
- CADD 28.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available