A14A (p.Ala14Ala) variant of NIPBL (Nipped-B-like protein)
A14A (p.Ala14Ala) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs727504045
- gnomAD 5-36953738-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 11.70
- Population evidence available
- Structural context available
- Literature evidence available