V72L (p.Val72Leu) variant of NIPBL (Nipped-B-like protein)
V72L (p.Val72Leu) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- gnomAD 5-36955621-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.97
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available