L40F (p.Leu40Phe) variant of NIPBL (Nipped-B-like protein)
L40F (p.Leu40Phe) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- gnomAD 5-36955525-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available