D86G (p.Asp86Gly) variant of NIPBL (Nipped-B-like protein)
D86G (p.Asp86Gly) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D86G (p.Asp86Gly) variant details
- p.Asp86Gly
- gnomAD 5-36958130-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.94
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available