F42F (p.Phe42Phe) variant of NIPBL (Nipped-B-like protein)
F42F (p.Phe42Phe) 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.
F42F (p.Phe42Phe) variant details
- p.Phe42Phe
- rs727504046
- gnomAD 5-36955533-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 11.10
- Population evidence available
- Structural context available
- Literature evidence available