K43N (p.Lys43Asn) variant of CUX1 (Homeobox protein cut-like 1)
K43N (p.Lys43Asn) 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 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K43N (p.Lys43Asn) variant details
- p.Lys43Asn
- rs748511869
- ClinGen CA4410342
- ClinVar RCV003308895
- ExAC rs748511869
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.21
- MetaLR 0.22
- MetaSVM -0.68
- CADD 27.30
- PolyPhen-2 0.96
- 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 3.6e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.699
- 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)