A15D (p.Ala15Asp) variant of CUX1 (Homeobox protein cut-like 1)
A15D (p.Ala15Asp) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A15D (p.Ala15Asp) variant details
- p.Ala15Asp
- NCI-TCGA Cosmic COSV5290
- NCI-TCGA Cosmic COSV9947
- cosmic curated COSV99471
- ExAC rs778368760
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.22
- MetaLR 0.11
- MetaSVM -1.03
- CADD 26.50
- PolyPhen-2 0.73
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.345