N80K (p.Asn80Lys) variant of CUX1 (Homeobox protein cut-like 1)
N80K (p.Asn80Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N80K (p.Asn80Lys) variant details
- p.Asn80Lys
- gnomAD rs1397038203
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.05
- CADD 22.10
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.188