T37T (p.Thr37Thr) variant of NIPBL (Nipped-B-like protein)
T37T (p.Thr37Thr) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T37T (p.Thr37Thr) variant details
- p.Thr37Thr
- rs576203422
- gnomAD 5-36955518-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 10.70
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Literature evidence available