Q71E (p.Gln71Glu) variant of NIPBL (Nipped-B-like protein)
Q71E (p.Gln71Glu) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Q71E (p.Gln71Glu) variant details
- p.Gln71Glu
- rs780649689
- ExAC rs780649689
- gnomAD rs780649689
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.32
- CADD 24.50
- PolyPhen-2 0.90
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available