L28L (p.Leu28Leu) variant of NIPBL (Nipped-B-like protein)
L28L (p.Leu28Leu) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- gnomAD 5-36955491-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 9.40
- Population evidence available
- Structural context available
- Literature evidence available