P46L (p.Pro46Leu) variant of CUX1 (Homeobox protein cut-like 1)
P46L (p.Pro46Leu) in CUX1 (Homeobox protein cut-like 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- ExAC rs761704472
- gnomAD rs761704472
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -0.79
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.594