L2S (p.Leu2Ser) variant of CUX1 (Homeobox protein cut-like 1)
L2S (p.Leu2Ser) in CUX1 (Homeobox protein cut-like 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L2S (p.Leu2Ser) variant details
- p.Leu2Ser
- gnomAD rs1477929719
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -0.92
- CADD 22.00
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5.6e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.329