L100L (p.Leu100Leu) variant of NIPBL (Nipped-B-like protein)
L100L (p.Leu100Leu) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L100L (p.Leu100Leu) variant details
- p.Leu100Leu
- rs768550843
- gnomAD 5-36958173-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available