N60I (p.Asn60Ile) variant of NIPBL (Nipped-B-like protein)
N60I (p.Asn60Ile) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N60I (p.Asn60Ile) variant details
- p.Asn60Ile
- 1000Genomes rs142703446
- ESP rs142703446
- ExAC rs142703446
- TOPMed rs142703446
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 15.90
- PolyPhen-2 0.06
- SIFT 0.06
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available