L40V (p.Leu40Val) variant of NIPBL (Nipped-B-like protein)
L40V (p.Leu40Val) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- TOPMed rs1740840042
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- ESM-1b 0.00
- AlphaMissense 0.73
- Structural context available