L19V (p.Leu19Val) variant of NIPBL (Nipped-B-like protein)
L19V (p.Leu19Val) 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.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD 5-36953751-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.86
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available