A54V (p.Ala54Val) variant of CUX1 (Homeobox protein cut-like 1)
A54V (p.Ala54Val) 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 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52897
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -1.02
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.485