Q71H (p.Gln71His) variant of NIPBL (Nipped-B-like protein)
Q71H (p.Gln71His) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q71H (p.Gln71His) variant details
- p.Gln71His
- gnomAD rs988335122
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.79
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available