C3W (p.Cys3Trp) variant of CUX1 (Homeobox protein cut-like 1)
C3W (p.Cys3Trp) in CUX1 (Homeobox protein cut-like 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C3W (p.Cys3Trp) variant details
- p.Cys3Trp
- gnomAD 7-101817648-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.24
- MetaLR 0.16
- MetaSVM -0.86
- CADD 15.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.227
- Literature evidence available