A17T (p.Ala17Thr) variant of CUX1 (Homeobox protein cut-like 1)
A17T (p.Ala17Thr) in CUX1 (Homeobox protein cut-like 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs867880450
- NCI-TCGA Cosmic COSV5290
- cosmic curated COSV52908
- gnomAD rs867880450
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.28
- MetaLR 0.22
- MetaSVM -0.75
- CADD 31.00
- PolyPhen-2 0.88
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.842