A47A (p.Ala47Ala) variant of NIPBL (Nipped-B-like protein)
A47A (p.Ala47Ala) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A47A (p.Ala47Ala) variant details
- p.Ala47Ala
- gnomAD 5-36955548-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 12.20
- Population evidence available
- Structural context available
- Literature evidence available