L54L (p.Leu54Leu) variant of NIPBL (Nipped-B-like protein)
L54L (p.Leu54Leu) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- gnomAD 5-36955567-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 10.30
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available