Y82C (p.Tyr82Cys) variant of CUX1 (Homeobox protein cut-like 1)
Y82C (p.Tyr82Cys) in CUX1 (Homeobox protein cut-like 1) is a missense change. Clinical records from ClinVar 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 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y82C (p.Tyr82Cys) variant details
- p.Tyr82Cys
- TOPMed rs915704529
- gnomAD rs915704529
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.65
- MetaLR 0.24
- MetaSVM -0.74
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.0788