L13L (p.Leu13Leu) variant of NIPBL (Nipped-B-like protein)
L13L (p.Leu13Leu) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- rs1740650095
- gnomAD 5-36953735-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 11.50
- Population evidence available
- Structural context available
- Literature evidence available