L69L (p.Leu69Leu) variant of NIPBL (Nipped-B-like protein)
L69L (p.Leu69Leu) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L69L (p.Leu69Leu) variant details
- p.Leu69Leu
- rs1294399604
- gnomAD 5-36955614-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 9.38
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available