L65I (p.Leu65Ile) variant of NIPBL (Nipped-B-like protein)
L65I (p.Leu65Ile) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L65I (p.Leu65Ile) variant details
- p.Leu65Ile
- gnomAD 5-36955600-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available