D81N (p.Asp81Asn) variant of NIPBL (Nipped-B-like protein)
D81N (p.Asp81Asn) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D81N (p.Asp81Asn) variant details
- p.Asp81Asn
- gnomAD 5-36958114-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available