N82D (p.Asn82Asp) variant of NIPBL (Nipped-B-like protein)
N82D (p.Asn82Asp) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N82D (p.Asn82Asp) variant details
- p.Asn82Asp
- gnomAD rs1741184137
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.90
- CADD 26.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available