N60T (p.Asn60Thr) variant of NIPBL (Nipped-B-like protein)
N60T (p.Asn60Thr) 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 0.21 / 1. The record also includes population frequency data and structural context.
N60T (p.Asn60Thr) variant details
- p.Asn60Thr
- 1000Genomes rs142703446
- ESP rs142703446
- ExAC rs142703446
- TOPMed rs142703446
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available