H76Q (p.His76Gln) variant of NIPBL (Nipped-B-like protein)
H76Q (p.His76Gln) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes structural context.
H76Q (p.His76Gln) variant details
- p.His76Gln
- Ensembl rs74401909
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- ESM-1b 0.00
- AlphaMissense 0.96
- Structural context available