D21E (p.Asp21Glu) variant of NIPBL (Nipped-B-like protein)
D21E (p.Asp21Glu) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D21E (p.Asp21Glu) variant details
- p.Asp21Glu
- gnomAD rs1740652106
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available