H76D (p.His76Asp) variant of NIPBL (Nipped-B-like protein)
H76D (p.His76Asp) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
H76D (p.His76Asp) variant details
- p.His76Asp
- TOPMed rs1387690193
- gnomAD rs1387690193
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.86
- ESM-1b 0.00
- AlphaMissense 0.97
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available