A54G (p.Ala54Gly) variant of CUX1 (Homeobox protein cut-like 1)
A54G (p.Ala54Gly) in CUX1 (Homeobox protein cut-like 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A54G (p.Ala54Gly) variant details
- p.Ala54Gly
- rs143267032
- ClinGen CA4410374
- NCI-TCGA Cosmic COSV5289
- ClinVar RCV004375326
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.19
- MetaLR 0.16
- MetaSVM -0.95
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.485
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)