T12T (p.Thr12Thr) variant of NIPBL (Nipped-B-like protein)
T12T (p.Thr12Thr) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T12T (p.Thr12Thr) variant details
- p.Thr12Thr
- rs1740649844
- gnomAD 5-36953732-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available