A5G (p.Ala5Gly) variant of CUX1 (Homeobox protein cut-like 1)
A5G (p.Ala5Gly) in CUX1 (Homeobox protein cut-like 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- gnomAD 7-101816034-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 28.00
- Most common in the REMAINING population (allele frequency 2.1e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.561
- Literature evidence available